SNP Links for Protein (Select 215982791) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 1392

<< First< Prev

Page of 70

Next >Last >>

Select item 14908606981.

rs1490860698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52376461 (GRCh38)
15:52668658 (GRCh37)
Canonical SPDI:: NC_000015.10:52376460:G:A
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.52376461G>A, NC_000015.9:g.52668658G>A, NG_009887.1:g.157590C>T, NM_000259.3:c.2306C>T, NM_001142495.2:c.2306C>T, NM_001142495.1:c.2306C>T, NM_001382348.1:c.2378C>T, NM_001382349.1:c.2378C>T, NM_001382347.1:c.2306C>T, XM_047432546.1:c.1592C>T, XM_047432540.1:c.2306C>T, XM_047432541.1:c.2306C>T, XM_047432542.1:c.2306C>T, XM_047432543.1:c.2306C>T, XM_047432544.1:c.2306C>T, NM_001411135.1:c.2306C>T, XM_047432545.1:c.1913C>T, NP_000250.3:p.Ala769Val, NP_001135967.2:p.Ala769Val, NP_001369277.1:p.Ala793Val, NP_001369278.1:p.Ala793Val, NP_001369276.1:p.Ala769Val, XP_047288502.1:p.Ala531Val, XP_047288496.1:p.Ala769Val, XP_047288497.1:p.Ala769Val, XP_047288498.1:p.Ala769Val, XP_047288499.1:p.Ala769Val, XP_047288500.1:p.Ala769Val, XP_047288501.1:p.Ala638Val

Select item 14899084682.

rs1489908468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52317111 (GRCh38)
15:52609308 (GRCh37)
Canonical SPDI:: NC_000015.10:52317110:T:C
Gene:: MYO5A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.52317111T>C, NC_000015.9:g.52609308T>C, NG_009887.1:g.216940A>G, NM_000259.3:c.5271A>G, NM_001142495.2:c.5190A>G, NM_001142495.1:c.5190A>G, NM_001382348.1:c.5418A>G, NM_001382349.1:c.5343A>G, NM_001382347.1:c.5346A>G, XM_047432546.1:c.4632A>G, XM_047432540.1:c.5337A>G, XM_047432541.1:c.5265A>G, XM_047432542.1:c.5262A>G, XM_047432543.1:c.5256A>G, XM_047432544.1:c.5181A>G, NM_001411135.1:c.5262A>G, XM_047432545.1:c.4953A>G

Select item 14895897513.

rs1489589751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52360017 (GRCh38)
15:52652214 (GRCh37)
Canonical SPDI:: NC_000015.10:52360016:A:G
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.52360017A>G, NC_000015.9:g.52652214A>G, NG_009887.1:g.174034T>C, NM_000259.3:c.3374T>C, NM_001142495.2:c.3374T>C, NM_001142495.1:c.3374T>C, NM_001382348.1:c.3446T>C, NM_001382349.1:c.3446T>C, NM_001382347.1:c.3374T>C, XM_047432546.1:c.2660T>C, XM_047432540.1:c.3374T>C, XM_047432541.1:c.3374T>C, XM_047432542.1:c.3374T>C, XM_047432543.1:c.3374T>C, XM_047432544.1:c.3374T>C, NM_001411135.1:c.3374T>C, XM_047432545.1:c.2981T>C, NP_000250.3:p.Ile1125Thr, NP_001135967.2:p.Ile1125Thr, NP_001369277.1:p.Ile1149Thr, NP_001369278.1:p.Ile1149Thr, NP_001369276.1:p.Ile1125Thr, XP_047288502.1:p.Ile887Thr, XP_047288496.1:p.Ile1125Thr, XP_047288497.1:p.Ile1125Thr, XP_047288498.1:p.Ile1125Thr, XP_047288499.1:p.Ile1125Thr, XP_047288500.1:p.Ile1125Thr, XP_047288501.1:p.Ile994Thr

Select item 14880699034.

rs1488069903 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:52383140 (GRCh38)
15:52675337 (GRCh37)
Canonical SPDI:: NC_000015.10:52383139:G:C
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.52383140G>C, NC_000015.9:g.52675337G>C, NG_009887.1:g.150911C>G, NM_000259.3:c.1963C>G, NM_001142495.2:c.1963C>G, NM_001142495.1:c.1963C>G, NM_001382348.1:c.2035C>G, NM_001382349.1:c.2035C>G, NM_001382347.1:c.1963C>G, XM_047432546.1:c.1249C>G, XM_047432540.1:c.1963C>G, XM_047432541.1:c.1963C>G, XM_047432542.1:c.1963C>G, XM_047432543.1:c.1963C>G, XM_047432544.1:c.1963C>G, NM_001411135.1:c.1963C>G, XM_047432545.1:c.1570C>G, NP_000250.3:p.Pro655Ala, NP_001135967.2:p.Pro655Ala, NP_001369277.1:p.Pro679Ala, NP_001369278.1:p.Pro679Ala, NP_001369276.1:p.Pro655Ala, XP_047288502.1:p.Pro417Ala, XP_047288496.1:p.Pro655Ala, XP_047288497.1:p.Pro655Ala, XP_047288498.1:p.Pro655Ala, XP_047288499.1:p.Pro655Ala, XP_047288500.1:p.Pro655Ala, XP_047288501.1:p.Pro524Ala

Select item 14877681005.

rs1487768100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52351455 (GRCh38)
15:52643652 (GRCh37)
Canonical SPDI:: NC_000015.10:52351454:T:C
Gene:: MYO5A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52351455T>C, NC_000015.9:g.52643652T>C, NG_009887.1:g.182596A>G, NM_000259.3:c.3648A>G, NM_001142495.2:c.3648A>G, NM_001142495.1:c.3648A>G, NM_001382348.1:c.3720A>G, NM_001382349.1:c.3720A>G, NM_001382347.1:c.3648A>G, XM_047432546.1:c.2934A>G, XM_047432540.1:c.3648A>G, XM_047432541.1:c.3648A>G, XM_047432542.1:c.3648A>G, XM_047432543.1:c.3648A>G, XM_047432544.1:c.3648A>G, NM_001411135.1:c.3648A>G, XM_047432545.1:c.3255A>G

Select item 14875245156.

rs1487524515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:52317169 (GRCh38)
15:52609366 (GRCh37)
Canonical SPDI:: NC_000015.10:52317168:C:G,NC_000015.10:52317168:C:T
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.52317169C>G, NC_000015.10:g.52317169C>T, NC_000015.9:g.52609366C>G, NC_000015.9:g.52609366C>T, NG_009887.1:g.216882G>C, NG_009887.1:g.216882G>A, NM_000259.3:c.5213G>C, NM_000259.3:c.5213G>A, NM_001142495.2:c.5132G>C, NM_001142495.2:c.5132G>A, NM_001142495.1:c.5132G>C, NM_001142495.1:c.5132G>A, NM_001382348.1:c.5360G>C, NM_001382348.1:c.5360G>A, NM_001382349.1:c.5285G>C, NM_001382349.1:c.5285G>A, NM_001382347.1:c.5288G>C, NM_001382347.1:c.5288G>A, XM_047432546.1:c.4574G>C, XM_047432546.1:c.4574G>A, XM_047432540.1:c.5279G>C, XM_047432540.1:c.5279G>A, XM_047432541.1:c.5207G>C, XM_047432541.1:c.5207G>A, XM_047432542.1:c.5204G>C, XM_047432542.1:c.5204G>A, XM_047432543.1:c.5198G>C, XM_047432543.1:c.5198G>A, XM_047432544.1:c.5123G>C, XM_047432544.1:c.5123G>A, NM_001411135.1:c.5204G>C, NM_001411135.1:c.5204G>A, XM_047432545.1:c.4895G>C, XM_047432545.1:c.4895G>A, NP_000250.3:p.Ser1738Thr, NP_000250.3:p.Ser1738Asn, NP_001135967.2:p.Ser1711Thr, NP_001135967.2:p.Ser1711Asn, NP_001369277.1:p.Ser1787Thr, NP_001369277.1:p.Ser1787Asn, NP_001369278.1:p.Ser1762Thr, NP_001369278.1:p.Ser1762Asn, NP_001369276.1:p.Ser1763Thr, NP_001369276.1:p.Ser1763Asn, XP_047288502.1:p.Ser1525Thr, XP_047288502.1:p.Ser1525Asn, XP_047288496.1:p.Ser1760Thr, XP_047288496.1:p.Ser1760Asn, XP_047288497.1:p.Ser1736Thr, XP_047288497.1:p.Ser1736Asn, XP_047288498.1:p.Ser1735Thr, XP_047288498.1:p.Ser1735Asn, XP_047288499.1:p.Ser1733Thr, XP_047288499.1:p.Ser1733Asn, XP_047288500.1:p.Ser1708Thr, XP_047288500.1:p.Ser1708Asn, XP_047288501.1:p.Ser1632Thr, XP_047288501.1:p.Ser1632Asn

Select item 14873775897.

rs1487377589 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:52384204 (GRCh38)
15:52676401 (GRCh37)
Canonical SPDI:: NC_000015.10:52384203:G:C,NC_000015.10:52384203:G:T
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52384204G>C, NC_000015.10:g.52384204G>T, NC_000015.9:g.52676401G>C, NC_000015.9:g.52676401G>T, NG_009887.1:g.149847C>G, NG_009887.1:g.149847C>A, NM_000259.3:c.1871C>G, NM_000259.3:c.1871C>A, NM_001142495.2:c.1871C>G, NM_001142495.2:c.1871C>A, NM_001142495.1:c.1871C>G, NM_001142495.1:c.1871C>A, NM_001382348.1:c.1943C>G, NM_001382348.1:c.1943C>A, NM_001382349.1:c.1943C>G, NM_001382349.1:c.1943C>A, NM_001382347.1:c.1871C>G, NM_001382347.1:c.1871C>A, XM_047432546.1:c.1157C>G, XM_047432546.1:c.1157C>A, XM_047432540.1:c.1871C>G, XM_047432540.1:c.1871C>A, XM_047432541.1:c.1871C>G, XM_047432541.1:c.1871C>A, XM_047432542.1:c.1871C>G, XM_047432542.1:c.1871C>A, XM_047432543.1:c.1871C>G, XM_047432543.1:c.1871C>A, XM_047432544.1:c.1871C>G, XM_047432544.1:c.1871C>A, NM_001411135.1:c.1871C>G, NM_001411135.1:c.1871C>A, XM_047432545.1:c.1478C>G, XM_047432545.1:c.1478C>A, NP_000250.3:p.Pro624Arg, NP_000250.3:p.Pro624Gln, NP_001135967.2:p.Pro624Arg, NP_001135967.2:p.Pro624Gln, NP_001369277.1:p.Pro648Arg, NP_001369277.1:p.Pro648Gln, NP_001369278.1:p.Pro648Arg, NP_001369278.1:p.Pro648Gln, NP_001369276.1:p.Pro624Arg, NP_001369276.1:p.Pro624Gln, XP_047288502.1:p.Pro386Arg, XP_047288502.1:p.Pro386Gln, XP_047288496.1:p.Pro624Arg, XP_047288496.1:p.Pro624Gln, XP_047288497.1:p.Pro624Arg, XP_047288497.1:p.Pro624Gln, XP_047288498.1:p.Pro624Arg, XP_047288498.1:p.Pro624Gln, XP_047288499.1:p.Pro624Arg, XP_047288499.1:p.Pro624Gln, XP_047288500.1:p.Pro624Arg, XP_047288500.1:p.Pro624Gln, XP_047288501.1:p.Pro493Arg, XP_047288501.1:p.Pro493Gln

Select item 14872523748.

rs1487252374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:52425959 (GRCh38)
15:52718156 (GRCh37)
Canonical SPDI:: NC_000015.10:52425958:G:C
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52425959G>C, NC_000015.9:g.52718156G>C, NG_009887.1:g.108092C>G, NM_000259.3:c.326C>G, NM_001142495.2:c.326C>G, NM_001142495.1:c.326C>G, NM_001382348.1:c.398C>G, NM_001382349.1:c.398C>G, NM_001382347.1:c.326C>G, XM_047432540.1:c.326C>G, XM_047432541.1:c.326C>G, XM_047432542.1:c.326C>G, XM_047432543.1:c.326C>G, XM_047432544.1:c.326C>G, NM_001411135.1:c.326C>G, XM_047432545.1:c.-68C>G, NP_000250.3:p.Ala109Gly, NP_001135967.2:p.Ala109Gly, NP_001369277.1:p.Ala133Gly, NP_001369278.1:p.Ala133Gly, NP_001369276.1:p.Ala109Gly, XP_047288496.1:p.Ala109Gly, XP_047288497.1:p.Ala109Gly, XP_047288498.1:p.Ala109Gly, XP_047288499.1:p.Ala109Gly, XP_047288500.1:p.Ala109Gly

Select item 14872169199.

rs1487216919 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52379849 (GRCh38)
15:52672046 (GRCh37)
Canonical SPDI:: NC_000015.10:52379848:C:T
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/1 (TOMMO)
HGVS:: NC_000015.10:g.52379849C>T, NC_000015.9:g.52672046C>T, NG_009887.1:g.154202G>A, NM_000259.3:c.2072G>A, NM_001142495.2:c.2072G>A, NM_001142495.1:c.2072G>A, NM_001382348.1:c.2144G>A, NM_001382349.1:c.2144G>A, NM_001382347.1:c.2072G>A, XM_047432546.1:c.1358G>A, XM_047432540.1:c.2072G>A, XM_047432541.1:c.2072G>A, XM_047432542.1:c.2072G>A, XM_047432543.1:c.2072G>A, XM_047432544.1:c.2072G>A, NM_001411135.1:c.2072G>A, XM_047432545.1:c.1679G>A, NP_000250.3:p.Arg691Gln, NP_001135967.2:p.Arg691Gln, NP_001369277.1:p.Arg715Gln, NP_001369278.1:p.Arg715Gln, NP_001369276.1:p.Arg691Gln, XP_047288502.1:p.Arg453Gln, XP_047288496.1:p.Arg691Gln, XP_047288497.1:p.Arg691Gln, XP_047288498.1:p.Arg691Gln, XP_047288499.1:p.Arg691Gln, XP_047288500.1:p.Arg691Gln, XP_047288501.1:p.Arg560Gln

Select item 148653428110.

rs1486534281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:52340232 (GRCh38)
15:52632429 (GRCh37)
Canonical SPDI:: NC_000015.10:52340231:C:G
Gene:: MYO5A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52340232C>G, NC_000015.9:g.52632429C>G, NG_009887.1:g.193819G>C, NM_000259.3:c.4203G>C, NM_001142495.2:c.4122G>C, NM_001142495.1:c.4122G>C, NM_001382348.1:c.4275G>C, NM_001382349.1:c.4275G>C, NM_001382347.1:c.4203G>C, XM_047432546.1:c.3489G>C, XM_047432540.1:c.4194G>C, XM_047432541.1:c.4122G>C, XM_047432542.1:c.4194G>C, XM_047432543.1:c.4113G>C, XM_047432544.1:c.4113G>C, NM_001411135.1:c.4194G>C, XM_047432545.1:c.3810G>C

Select item 148620574311.

rs1486205743 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:52336549 (GRCh38)
15:52628746 (GRCh37)
Canonical SPDI:: NC_000015.10:52336548:A:G
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000015.10:g.52336549A>G, NC_000015.9:g.52628746A>G, NG_009887.1:g.197502T>C, NM_000259.3:c.4247T>C, NM_001142495.2:c.4166T>C, NM_001142495.1:c.4166T>C, NM_001382348.1:c.4394T>C, NM_001382349.1:c.4319T>C, NM_001382347.1:c.4322T>C, XM_047432546.1:c.3608T>C, XM_047432540.1:c.4313T>C, XM_047432541.1:c.4241T>C, XM_047432542.1:c.4238T>C, XM_047432543.1:c.4232T>C, XM_047432544.1:c.4157T>C, NM_001411135.1:c.4238T>C, XM_047432545.1:c.3929T>C, NP_000250.3:p.Met1416Thr, NP_001135967.2:p.Met1389Thr, NP_001369277.1:p.Met1465Thr, NP_001369278.1:p.Met1440Thr, NP_001369276.1:p.Met1441Thr, XP_047288502.1:p.Met1203Thr, XP_047288496.1:p.Met1438Thr, XP_047288497.1:p.Met1414Thr, XP_047288498.1:p.Met1413Thr, XP_047288499.1:p.Met1411Thr, XP_047288500.1:p.Met1386Thr, XP_047288501.1:p.Met1310Thr

Select item 148516216312.

rs1485162163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:52323407 (GRCh38)
15:52615604 (GRCh37)
Canonical SPDI:: NC_000015.10:52323406:A:C
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52323407A>C, NC_000015.9:g.52615604A>C, NG_009887.1:g.210644T>G, NM_000259.3:c.4673T>G, NM_001142495.2:c.4592T>G, NM_001142495.1:c.4592T>G, NM_001382348.1:c.4820T>G, NM_001382349.1:c.4745T>G, NM_001382347.1:c.4748T>G, XM_047432546.1:c.4034T>G, XM_047432540.1:c.4739T>G, XM_047432541.1:c.4667T>G, XM_047432542.1:c.4664T>G, XM_047432543.1:c.4658T>G, XM_047432544.1:c.4583T>G, NM_001411135.1:c.4664T>G, XM_047432545.1:c.4355T>G, NP_000250.3:p.Leu1558Arg, NP_001135967.2:p.Leu1531Arg, NP_001369277.1:p.Leu1607Arg, NP_001369278.1:p.Leu1582Arg, NP_001369276.1:p.Leu1583Arg, XP_047288502.1:p.Leu1345Arg, XP_047288496.1:p.Leu1580Arg, XP_047288497.1:p.Leu1556Arg, XP_047288498.1:p.Leu1555Arg, XP_047288499.1:p.Leu1553Arg, XP_047288500.1:p.Leu1528Arg, XP_047288501.1:p.Leu1452Arg

Select item 148469132013.

rs1484691320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52340248 (GRCh38)
15:52632445 (GRCh37)
Canonical SPDI:: NC_000015.10:52340247:C:T
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52340248C>T, NC_000015.9:g.52632445C>T, NG_009887.1:g.193803G>A, NM_000259.3:c.4187G>A, NM_001142495.2:c.4106G>A, NM_001142495.1:c.4106G>A, NM_001382348.1:c.4259G>A, NM_001382349.1:c.4259G>A, NM_001382347.1:c.4187G>A, XM_047432546.1:c.3473G>A, XM_047432540.1:c.4178G>A, XM_047432541.1:c.4106G>A, XM_047432542.1:c.4178G>A, XM_047432543.1:c.4097G>A, XM_047432544.1:c.4097G>A, NM_001411135.1:c.4178G>A, XM_047432545.1:c.3794G>A, NP_000250.3:p.Arg1396His, NP_001135967.2:p.Arg1369His, NP_001369277.1:p.Arg1420His, NP_001369278.1:p.Arg1420His, NP_001369276.1:p.Arg1396His, XP_047288502.1:p.Arg1158His, XP_047288496.1:p.Arg1393His, XP_047288497.1:p.Arg1369His, XP_047288498.1:p.Arg1393His, XP_047288499.1:p.Arg1366His, XP_047288500.1:p.Arg1366His, XP_047288501.1:p.Arg1265His

Select item 148419474714.

rs1484194747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:52351316 (GRCh38)
15:52643513 (GRCh37)
Canonical SPDI:: NC_000015.10:52351315:T:C,NC_000015.10:52351315:T:G
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.52351316T>C, NC_000015.10:g.52351316T>G, NC_000015.9:g.52643513T>C, NC_000015.9:g.52643513T>G, NG_009887.1:g.182735A>G, NG_009887.1:g.182735A>C, NM_000259.3:c.3787A>G, NM_000259.3:c.3787A>C, NM_001142495.2:c.3787A>G, NM_001142495.2:c.3787A>C, NM_001142495.1:c.3787A>G, NM_001142495.1:c.3787A>C, NM_001382348.1:c.3859A>G, NM_001382348.1:c.3859A>C, NM_001382349.1:c.3859A>G, NM_001382349.1:c.3859A>C, NM_001382347.1:c.3787A>G, NM_001382347.1:c.3787A>C, XM_047432546.1:c.3073A>G, XM_047432546.1:c.3073A>C, XM_047432540.1:c.3787A>G, XM_047432540.1:c.3787A>C, XM_047432541.1:c.3787A>G, XM_047432541.1:c.3787A>C, XM_047432542.1:c.3787A>G, XM_047432542.1:c.3787A>C, XM_047432543.1:c.3787A>G, XM_047432543.1:c.3787A>C, XM_047432544.1:c.3787A>G, XM_047432544.1:c.3787A>C, NM_001411135.1:c.3787A>G, NM_001411135.1:c.3787A>C, XM_047432545.1:c.3394A>G, XM_047432545.1:c.3394A>C, NP_000250.3:p.Lys1263Glu, NP_000250.3:p.Lys1263Gln, NP_001135967.2:p.Lys1263Glu, NP_001135967.2:p.Lys1263Gln, NP_001369277.1:p.Lys1287Glu, NP_001369277.1:p.Lys1287Gln, NP_001369278.1:p.Lys1287Glu, NP_001369278.1:p.Lys1287Gln, NP_001369276.1:p.Lys1263Glu, NP_001369276.1:p.Lys1263Gln, XP_047288502.1:p.Lys1025Glu, XP_047288502.1:p.Lys1025Gln, XP_047288496.1:p.Lys1263Glu, XP_047288496.1:p.Lys1263Gln, XP_047288497.1:p.Lys1263Glu, XP_047288497.1:p.Lys1263Gln, XP_047288498.1:p.Lys1263Glu, XP_047288498.1:p.Lys1263Gln, XP_047288499.1:p.Lys1263Glu, XP_047288499.1:p.Lys1263Gln, XP_047288500.1:p.Lys1263Glu, XP_047288500.1:p.Lys1263Gln, XP_047288501.1:p.Lys1132Glu, XP_047288501.1:p.Lys1132Gln

Select item 148199755315.

rs1481997553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:52351256 (GRCh38)
15:52643453 (GRCh37)
Canonical SPDI:: NC_000015.10:52351255:T:G
Gene:: MYO5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52351256T>G, NC_000015.9:g.52643453T>G, NG_009887.1:g.182795A>C, NM_000259.3:c.3847A>C, NM_001142495.2:c.3847A>C, NM_001142495.1:c.3847A>C, NM_001382348.1:c.3919A>C, NM_001382349.1:c.3919A>C, NM_001382347.1:c.3847A>C, XM_047432546.1:c.3133A>C, XM_047432540.1:c.3847A>C, XM_047432541.1:c.3847A>C, XM_047432542.1:c.3847A>C, XM_047432543.1:c.3847A>C, XM_047432544.1:c.3847A>C, NM_001411135.1:c.3847A>C, XM_047432545.1:c.3454A>C, NP_000250.3:p.Lys1283Gln, NP_001135967.2:p.Lys1283Gln, NP_001369277.1:p.Lys1307Gln, NP_001369278.1:p.Lys1307Gln, NP_001369276.1:p.Lys1283Gln, XP_047288502.1:p.Lys1045Gln, XP_047288496.1:p.Lys1283Gln, XP_047288497.1:p.Lys1283Gln, XP_047288498.1:p.Lys1283Gln, XP_047288499.1:p.Lys1283Gln, XP_047288500.1:p.Lys1283Gln, XP_047288501.1:p.Lys1152Gln

Select item 148141696416.

rs1481416964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52360003 (GRCh38)
15:52652200 (GRCh37)
Canonical SPDI:: NC_000015.10:52360002:T:C
Gene:: MYO5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.52360003T>C, NC_000015.9:g.52652200T>C, NG_009887.1:g.174048A>G, NM_000259.3:c.3388A>G, NM_001142495.2:c.3388A>G, NM_001142495.1:c.3388A>G, NM_001382348.1:c.3460A>G, NM_001382349.1:c.3460A>G, NM_001382347.1:c.3388A>G, XM_047432546.1:c.2674A>G, XM_047432540.1:c.3388A>G, XM_047432541.1:c.3388A>G, XM_047432542.1:c.3388A>G, XM_047432543.1:c.3388A>G, XM_047432544.1:c.3388A>G, NM_001411135.1:c.3388A>G, XM_047432545.1:c.2995A>G, NP_000250.3:p.Ile1130Val, NP_001135967.2:p.Ile1130Val, NP_001369277.1:p.Ile1154Val, NP_001369278.1:p.Ile1154Val, NP_001369276.1:p.Ile1130Val, XP_047288502.1:p.Ile892Val, XP_047288496.1:p.Ile1130Val, XP_047288497.1:p.Ile1130Val, XP_047288498.1:p.Ile1130Val, XP_047288499.1:p.Ile1130Val, XP_047288500.1:p.Ile1130Val, XP_047288501.1:p.Ile999Val

Select item 148070699117.

rs1480706991 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52313754 (GRCh38)
15:52605951 (GRCh37)
Canonical SPDI:: NC_000015.10:52313753:G:A
Gene:: MYO5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52313754G>A, NC_000015.9:g.52605951G>A, NG_009887.1:g.220297C>T, NM_000259.3:c.5510C>T, NM_001142495.2:c.5429C>T, NM_001142495.1:c.5429C>T, NM_001382348.1:c.5657C>T, NM_001382349.1:c.5582C>T, NM_001382347.1:c.5585C>T, XM_047432546.1:c.4871C>T, XM_047432540.1:c.5576C>T, XM_047432541.1:c.5504C>T, XM_047432542.1:c.5501C>T, XM_047432543.1:c.5495C>T, XM_047432544.1:c.5420C>T, NM_001411135.1:c.5501C>T, XM_047432545.1:c.5192C>T, NP_000250.3:p.Ala1837Val, NP_001135967.2:p.Ala1810Val, NP_001369277.1:p.Ala1886Val, NP_001369278.1:p.Ala1861Val, NP_001369276.1:p.Ala1862Val, XP_047288502.1:p.Ala1624Val, XP_047288496.1:p.Ala1859Val, XP_047288497.1:p.Ala1835Val, XP_047288498.1:p.Ala1834Val, XP_047288499.1:p.Ala1832Val, XP_047288500.1:p.Ala1807Val, XP_047288501.1:p.Ala1731Val

Select item 147955122818.

rs1479551228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:52372126 (GRCh38)
15:52664323 (GRCh37)
Canonical SPDI:: NC_000015.10:52372125:G:A
Gene:: MYO5A (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.52372126G>A, NC_000015.9:g.52664323G>A, NG_009887.1:g.161925C>T, NM_000259.3:c.2815C>T, NM_001142495.2:c.2815C>T, NM_001142495.1:c.2815C>T, NM_001382348.1:c.2887C>T, NM_001382349.1:c.2887C>T, NM_001382347.1:c.2815C>T, XM_047432546.1:c.2101C>T, XM_047432540.1:c.2815C>T, XM_047432541.1:c.2815C>T, XM_047432542.1:c.2815C>T, XM_047432543.1:c.2815C>T, XM_047432544.1:c.2815C>T, NM_001411135.1:c.2815C>T, XM_047432545.1:c.2422C>T, NP_000250.3:p.Gln939Ter, NP_001135967.2:p.Gln939Ter, NP_001369277.1:p.Gln963Ter, NP_001369278.1:p.Gln963Ter, NP_001369276.1:p.Gln939Ter, XP_047288502.1:p.Gln701Ter, XP_047288496.1:p.Gln939Ter, XP_047288497.1:p.Gln939Ter, XP_047288498.1:p.Gln939Ter, XP_047288499.1:p.Gln939Ter, XP_047288500.1:p.Gln939Ter, XP_047288501.1:p.Gln808Ter

Select item 147952295219.

rs1479522952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:52410421 (GRCh38)
15:52702618 (GRCh37)
Canonical SPDI:: NC_000015.10:52410420:T:C
Gene:: MYO5A (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.52410421T>C, NC_000015.9:g.52702618T>C, NG_009887.1:g.123630A>G, NM_000259.3:c.668A>G, NM_001142495.2:c.668A>G, NM_001142495.1:c.668A>G, NM_001382348.1:c.740A>G, NM_001382349.1:c.740A>G, NM_001382347.1:c.668A>G, XM_047432546.1:c.-47A>G, XM_047432540.1:c.668A>G, XM_047432541.1:c.668A>G, XM_047432542.1:c.668A>G, XM_047432543.1:c.668A>G, XM_047432544.1:c.668A>G, NM_001411135.1:c.668A>G, XM_047432545.1:c.275A>G, NP_000250.3:p.Tyr223Cys, NP_001135967.2:p.Tyr223Cys, NP_001369277.1:p.Tyr247Cys, NP_001369278.1:p.Tyr247Cys, NP_001369276.1:p.Tyr223Cys, XP_047288496.1:p.Tyr223Cys, XP_047288497.1:p.Tyr223Cys, XP_047288498.1:p.Tyr223Cys, XP_047288499.1:p.Tyr223Cys, XP_047288500.1:p.Tyr223Cys, XP_047288501.1:p.Tyr92Cys

Select item 147721297520.

rs1477212975 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:52327994 (GRCh38)
15:52620191 (GRCh37)
Canonical SPDI:: NC_000015.10:52327993:C:T
Gene:: MYO5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.52327994C>T, NC_000015.9:g.52620191C>T, NG_009887.1:g.206057G>A, NM_000259.3:c.4493G>A, NM_001142495.2:c.4412G>A, NM_001142495.1:c.4412G>A, NM_001382348.1:c.4640G>A, NM_001382349.1:c.4565G>A, NM_001382347.1:c.4568G>A, XM_047432546.1:c.3854G>A, XM_047432540.1:c.4559G>A, XM_047432541.1:c.4487G>A, XM_047432542.1:c.4484G>A, XM_047432543.1:c.4478G>A, XM_047432544.1:c.4403G>A, NM_001411135.1:c.4484G>A, XM_047432545.1:c.4175G>A, NP_000250.3:p.Arg1498His, NP_001135967.2:p.Arg1471His, NP_001369277.1:p.Arg1547His, NP_001369278.1:p.Arg1522His, NP_001369276.1:p.Arg1523His, XP_047288502.1:p.Arg1285His, XP_047288496.1:p.Arg1520His, XP_047288497.1:p.Arg1496His, XP_047288498.1:p.Arg1495His, XP_047288499.1:p.Arg1493His, XP_047288500.1:p.Arg1468His, XP_047288501.1:p.Arg1392His

<< First< Prev

Page of 70

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 215982791) (1392)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: