SNP Links for Protein (Select 311893365) - SNP

Links from Protein

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Select item 14907399861.

rs1490739986 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:65208221 (GRCh38)
11:64975692 (GRCh37)
Canonical SPDI:: NC_000011.10:65208220:T:G
Gene:: CAPN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65208221T>G, NC_000011.9:g.64975692T>G, NG_052817.1:g.32007T>G, NM_005186.4:c.1688T>G, NM_005186.3:c.1688T>G, NM_001198869.2:c.1688T>G, NM_001198869.1:c.1688T>G, NM_001198868.2:c.1688T>G, NM_001198868.1:c.1688T>G, NR_040008.2:n.1705T>G, NR_040008.1:n.1800T>G, XM_006718698.3:c.1688T>G, XM_006718698.2:c.1688T>G, XM_006718698.1:c.1688T>G, XM_011545292.2:c.1688T>G, XM_011545292.1:c.1688T>G, NM_001198870.1:c.1526T>G, NP_005177.2:p.Val563Gly, NP_001185798.1:p.Val563Gly, NP_001185797.1:p.Val563Gly, XP_006718761.1:p.Val563Gly, XP_011543594.1:p.Val563Gly

Select item 14905615952.

rs1490561595 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGAG>- [Show Flanks]
Chromosome:: 11:65206658 (GRCh38)
11:64974129 (GRCh37)
Canonical SPDI:: NC_000011.10:65206653:AGAGAAGAG:AGAG
Gene:: CAPN1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65206658_65206662del, NC_000011.9:g.64974129_64974133del, NG_052817.1:g.30444_30448del, NM_005186.4:c.1549_1553del, NM_005186.3:c.1549_1553del, NM_001198869.2:c.1549_1553del, NM_001198869.1:c.1549_1553del, NM_001198868.2:c.1549_1553del, NM_001198868.1:c.1549_1553del, NR_040008.2:n.1566_1570del, NR_040008.1:n.1661_1665del, XM_006718698.3:c.1549_1553del, XM_006718698.2:c.1549_1553del, XM_006718698.1:c.1549_1553del, XM_011545292.2:c.1549_1553del, XM_011545292.1:c.1549_1553del, NM_001198870.1:c.1387_1391del, NP_005177.2:p.Lys517fs, NP_001185798.1:p.Lys517fs, NP_001185797.1:p.Lys517fs, XP_006718761.1:p.Lys517fs, XP_011543594.1:p.Lys517fs

Select item 14877187403.

rs1487718740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:65186313 (GRCh38)
11:64953784 (GRCh37)
Canonical SPDI:: NC_000011.10:65186312:G:T
Gene:: CAPN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65186313G>T, NC_000011.9:g.64953784G>T, NG_052817.1:g.10099G>T, NM_005186.4:c.734G>T, NM_005186.3:c.734G>T, NM_001198869.2:c.734G>T, NM_001198869.1:c.734G>T, NM_001198868.2:c.734G>T, NM_001198868.1:c.734G>T, NR_040008.2:n.751G>T, NR_040008.1:n.846G>T, XM_006718698.3:c.734G>T, XM_006718698.2:c.734G>T, XM_006718698.1:c.734G>T, XM_011545292.2:c.734G>T, XM_011545292.1:c.734G>T, NM_001198870.1:c.572G>T, NP_005177.2:p.Gly245Val, NP_001185798.1:p.Gly245Val, NP_001185797.1:p.Gly245Val, XP_006718761.1:p.Gly245Val, XP_011543594.1:p.Gly245Val

Select item 14867392934.

rs1486739293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65185950 (GRCh38)
11:64953421 (GRCh37)
Canonical SPDI:: NC_000011.10:65185949:G:A
Gene:: CAPN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65185950G>A, NC_000011.9:g.64953421G>A, NG_052817.1:g.9736G>A, NM_005186.4:c.490G>A, NM_005186.3:c.490G>A, NM_001198869.2:c.490G>A, NM_001198869.1:c.490G>A, NM_001198868.2:c.490G>A, NM_001198868.1:c.490G>A, NR_040008.2:n.507G>A, NR_040008.1:n.602G>A, XM_006718698.3:c.490G>A, XM_006718698.2:c.490G>A, XM_006718698.1:c.490G>A, XM_011545292.2:c.490G>A, XM_011545292.1:c.490G>A, NM_001198870.1:c.328G>A, NP_005177.2:p.Val164Met, NP_001185798.1:p.Val164Met, NP_001185797.1:p.Val164Met, XP_006718761.1:p.Val164Met, XP_011543594.1:p.Val164Met

Select item 14854544555.

rs1485454455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGA [Show Flanks]
Chromosome:: 11:65182911 (GRCh38)
11:64950383 (GRCh37)
Canonical SPDI:: NC_000011.10:65182911:AAGGA:AAGGAAGGA
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGGAAGGA=0./0 (ALFA)
AAGG=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.65182913_65182916dup, NC_000011.9:g.64950384_64950387dup, NG_052817.1:g.6699_6702dup, NM_005186.4:c.212_215dup, NM_005186.3:c.212_215dup, NM_001198869.2:c.212_215dup, NM_001198869.1:c.212_215dup, NM_001198868.2:c.212_215dup, NM_001198868.1:c.212_215dup, NR_040008.2:n.299_302dup, NR_040008.1:n.394_397dup, XM_006718698.3:c.212_215dup, XM_006718698.2:c.212_215dup, XM_006718698.1:c.212_215dup, XM_011545292.2:c.212_215dup, XM_011545292.1:c.212_215dup, NM_001198870.1:c.121_124dup, NP_005177.2:p.Asp72fs, NP_001185798.1:p.Asp72fs, NP_001185797.1:p.Asp72fs, XP_006718761.1:p.Asp72fs, XP_011543594.1:p.Asp72fs

Select item 14853764386.

rs1485376438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65185994 (GRCh38)
11:64953465 (GRCh37)
Canonical SPDI:: NC_000011.10:65185993:G:A
Gene:: CAPN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.65185994G>A, NC_000011.9:g.64953465G>A, NG_052817.1:g.9780G>A, NM_005186.4:c.534G>A, NM_005186.3:c.534G>A, NM_001198869.2:c.534G>A, NM_001198869.1:c.534G>A, NM_001198868.2:c.534G>A, NM_001198868.1:c.534G>A, NR_040008.2:n.551G>A, NR_040008.1:n.646G>A, XM_006718698.3:c.534G>A, XM_006718698.2:c.534G>A, XM_006718698.1:c.534G>A, XM_011545292.2:c.534G>A, XM_011545292.1:c.534G>A, NM_001198870.1:c.372G>A

Select item 14847326707.

rs1484732670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65210046 (GRCh38)
11:64977517 (GRCh37)
Canonical SPDI:: NC_000011.10:65210045:A:G
Gene:: CAPN1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65210046A>G, NC_000011.9:g.64977517A>G, NG_052817.1:g.33832A>G, NM_005186.4:c.1892A>G, NM_005186.3:c.1892A>G, NM_001198869.2:c.1892A>G, NM_001198869.1:c.1892A>G, NM_001198868.2:c.1892A>G, NM_001198868.1:c.1892A>G, NR_040008.2:n.1909A>G, NR_040008.1:n.2004A>G, XM_006718698.3:c.1892A>G, XM_006718698.2:c.1892A>G, XM_006718698.1:c.1892A>G, XM_011545292.2:c.1892A>G, XM_011545292.1:c.1892A>G, NM_001198870.1:c.1730A>G, NP_005177.2:p.Lys631Arg, NP_001185798.1:p.Lys631Arg, NP_001185797.1:p.Lys631Arg, XP_006718761.1:p.Lys631Arg, XP_011543594.1:p.Lys631Arg

Select item 14841667768.

rs1484166776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65210858 (GRCh38)
11:64978329 (GRCh37)
Canonical SPDI:: NC_000011.10:65210857:T:C
Gene:: CAPN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65210858T>C, NC_000011.9:g.64978329T>C, NG_052817.1:g.34644T>C, NM_005186.4:c.2104T>C, NM_005186.3:c.2104T>C, NM_001198869.2:c.2104T>C, NM_001198869.1:c.2104T>C, NM_001198868.2:c.2104T>C, NM_001198868.1:c.2104T>C, NR_040008.2:n.2121T>C, NR_040008.1:n.2216T>C, XM_006718698.3:c.2104T>C, XM_006718698.2:c.2104T>C, XM_006718698.1:c.2104T>C, XM_011545292.2:c.2104T>C, XM_011545292.1:c.2104T>C, NM_001198870.1:c.1942T>C, NP_005177.2:p.Phe702Leu, NP_001185798.1:p.Phe702Leu, NP_001185797.1:p.Phe702Leu, XP_006718761.1:p.Phe702Leu, XP_011543594.1:p.Phe702Leu

Select item 14816884609.

rs1481688460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65206578 (GRCh38)
11:64974049 (GRCh37)
Canonical SPDI:: NC_000011.10:65206577:C:T
Gene:: CAPN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65206578C>T, NC_000011.9:g.64974049C>T, NG_052817.1:g.30364C>T, NM_005186.4:c.1469C>T, NM_005186.3:c.1469C>T, NM_001198869.2:c.1469C>T, NM_001198869.1:c.1469C>T, NM_001198868.2:c.1469C>T, NM_001198868.1:c.1469C>T, NR_040008.2:n.1486C>T, NR_040008.1:n.1581C>T, XM_006718698.3:c.1469C>T, XM_006718698.2:c.1469C>T, XM_006718698.1:c.1469C>T, XM_011545292.2:c.1469C>T, XM_011545292.1:c.1469C>T, NM_001198870.1:c.1307C>T, NP_005177.2:p.Pro490Leu, NP_001185798.1:p.Pro490Leu, NP_001185797.1:p.Pro490Leu, XP_006718761.1:p.Pro490Leu, XP_011543594.1:p.Pro490Leu

Select item 147870309010.

rs1478703090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65204729 (GRCh38)
11:64972200 (GRCh37)
Canonical SPDI:: NC_000011.10:65204728:G:A
Gene:: CAPN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65204729G>A, NC_000011.9:g.64972200G>A, NG_052817.1:g.28515G>A, NM_005186.4:c.1212G>A, NM_005186.3:c.1212G>A, NM_001198869.2:c.1212G>A, NM_001198869.1:c.1212G>A, NM_001198868.2:c.1212G>A, NM_001198868.1:c.1212G>A, NR_040008.2:n.1229G>A, NR_040008.1:n.1324G>A, XM_006718698.3:c.1212G>A, XM_006718698.2:c.1212G>A, XM_006718698.1:c.1212G>A, XM_011545292.2:c.1212G>A, XM_011545292.1:c.1212G>A, NM_001198870.1:c.1050G>A

Select item 147772311711.

rs1477723117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65183577 (GRCh38)
11:64951048 (GRCh37)
Canonical SPDI:: NC_000011.10:65183576:C:G
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65183577C>G, NC_000011.9:g.64951048C>G, NG_052817.1:g.7363C>G, NM_005186.4:c.441C>G, NM_005186.3:c.441C>G, NM_001198869.2:c.441C>G, NM_001198869.1:c.441C>G, NM_001198868.2:c.441C>G, NM_001198868.1:c.441C>G, NR_040008.2:n.458C>G, NR_040008.1:n.553C>G, XM_006718698.3:c.441C>G, XM_006718698.2:c.441C>G, XM_006718698.1:c.441C>G, XM_011545292.2:c.441C>G, XM_011545292.1:c.441C>G, NM_001198870.1:c.279C>G

Select item 147632241712.

rs1476322417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:65206790 (GRCh38)
11:64974261 (GRCh37)
Canonical SPDI:: NC_000011.10:65206789:G:A
Gene:: CAPN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.65206790G>A, NC_000011.9:g.64974261G>A, NG_052817.1:g.30576G>A, NM_005186.4:c.1576G>A, NM_005186.3:c.1576G>A, NM_001198869.2:c.1576G>A, NM_001198869.1:c.1576G>A, NM_001198868.2:c.1576G>A, NM_001198868.1:c.1576G>A, NR_040008.2:n.1593G>A, NR_040008.1:n.1688G>A, XM_006718698.3:c.1576G>A, XM_006718698.2:c.1576G>A, XM_006718698.1:c.1576G>A, XM_011545292.2:c.1576G>A, XM_011545292.1:c.1576G>A, NM_001198870.1:c.1414G>A, NP_005177.2:p.Asp526Asn, NP_001185798.1:p.Asp526Asn, NP_001185797.1:p.Asp526Asn, XP_006718761.1:p.Asp526Asn, XP_011543594.1:p.Asp526Asn

Select item 147444802713.

rs1474448027 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65182762 (GRCh38)
11:64950233 (GRCh37)
Canonical SPDI:: NC_000011.10:65182761:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65182762C>T, NC_000011.9:g.64950233C>T, NG_052817.1:g.6548C>T, NM_005186.4:c.61C>T, NM_005186.3:c.61C>T, NM_001198869.2:c.61C>T, NM_001198869.1:c.61C>T, NM_001198868.2:c.61C>T, NM_001198868.1:c.61C>T, NR_040008.2:n.148C>T, NR_040008.1:n.243C>T, XM_006718698.3:c.61C>T, XM_006718698.2:c.61C>T, XM_006718698.1:c.61C>T, XM_011545292.2:c.61C>T, XM_011545292.1:c.61C>T, NM_001198870.1:c.-31C>T, NP_005177.2:p.Gln21Ter, NP_001185798.1:p.Gln21Ter, NP_001185797.1:p.Gln21Ter, XP_006718761.1:p.Gln21Ter, XP_011543594.1:p.Gln21Ter

Select item 147225468514.

rs1472254685 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:65185945 (GRCh38)
11:64953416 (GRCh37)
Canonical SPDI:: NC_000011.10:65185944:T:C
Gene:: CAPN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_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_000011.10:g.65185945T>C, NC_000011.9:g.64953416T>C, NG_052817.1:g.9731T>C, NM_005186.4:c.485T>C, NM_005186.3:c.485T>C, NM_001198869.2:c.485T>C, NM_001198869.1:c.485T>C, NM_001198868.2:c.485T>C, NM_001198868.1:c.485T>C, NR_040008.2:n.502T>C, NR_040008.1:n.597T>C, XM_006718698.3:c.485T>C, XM_006718698.2:c.485T>C, XM_006718698.1:c.485T>C, XM_011545292.2:c.485T>C, XM_011545292.1:c.485T>C, NM_001198870.1:c.323T>C, NP_005177.2:p.Val162Ala, NP_001185798.1:p.Val162Ala, NP_001185797.1:p.Val162Ala, XP_006718761.1:p.Val162Ala, XP_011543594.1:p.Val162Ala

Select item 147121873215.

rs1471218732 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCCTC [Show Flanks]
Chromosome:: 11:65208094 (GRCh38)
11:64975566 (GRCh37)
Canonical SPDI:: NC_000011.10:65208094:CCCTC:CCCTCCCCTC
Gene:: CAPN1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: CCCTC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65208095_65208099dup, NC_000011.9:g.64975566_64975570dup, NG_052817.1:g.31881_31885dup, NM_005186.4:c.1646_1650dup, NM_005186.3:c.1646_1650dup, NM_001198869.2:c.1646_1650dup, NM_001198869.1:c.1646_1650dup, NM_001198868.2:c.1646_1650dup, NM_001198868.1:c.1646_1650dup, NR_040008.2:n.1663_1667dup, NR_040008.1:n.1758_1762dup, XM_006718698.3:c.1646_1650dup, XM_006718698.2:c.1646_1650dup, XM_006718698.1:c.1646_1650dup, XM_011545292.2:c.1646_1650dup, XM_011545292.1:c.1646_1650dup, NM_001198870.1:c.1484_1488dup, NP_005177.2:p.Phe551fs, NP_001185798.1:p.Phe551fs, NP_001185797.1:p.Phe551fs, XP_006718761.1:p.Phe551fs, XP_011543594.1:p.Phe551fs

Select item 147118867116.

rs1471188671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:65204858 (GRCh38)
11:64972329 (GRCh37)
Canonical SPDI:: NC_000011.10:65204857:G:C,NC_000011.10:65204857:G:T
Gene:: CAPN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Clinical significance:: pathogenic
HGVS:: NC_000011.10:g.65204858G>C, NC_000011.10:g.65204858G>T, NC_000011.9:g.64972329G>C, NC_000011.9:g.64972329G>T, NG_052817.1:g.28644G>C, NG_052817.1:g.28644G>T, NM_005186.4:c.1341G>C, NM_005186.4:c.1341G>T, NM_005186.3:c.1341G>C, NM_005186.3:c.1341G>T, NM_001198869.2:c.1341G>C, NM_001198869.2:c.1341G>T, NM_001198869.1:c.1341G>C, NM_001198869.1:c.1341G>T, NM_001198868.2:c.1341G>C, NM_001198868.2:c.1341G>T, NM_001198868.1:c.1341G>C, NM_001198868.1:c.1341G>T, NR_040008.2:n.1358G>C, NR_040008.2:n.1358G>T, NR_040008.1:n.1453G>C, NR_040008.1:n.1453G>T, XM_006718698.3:c.1341G>C, XM_006718698.3:c.1341G>T, XM_006718698.2:c.1341G>C, XM_006718698.2:c.1341G>T, XM_006718698.1:c.1341G>C, XM_006718698.1:c.1341G>T, XM_011545292.2:c.1341G>C, XM_011545292.2:c.1341G>T, XM_011545292.1:c.1341G>C, XM_011545292.1:c.1341G>T, NM_001198870.1:c.1179G>C, NM_001198870.1:c.1179G>T, NP_005177.2:p.Glu447Asp, NP_005177.2:p.Glu447Asp, NP_001185798.1:p.Glu447Asp, NP_001185798.1:p.Glu447Asp, NP_001185797.1:p.Glu447Asp, NP_001185797.1:p.Glu447Asp, XP_006718761.1:p.Glu447Asp, XP_006718761.1:p.Glu447Asp, XP_011543594.1:p.Glu447Asp, XP_011543594.1:p.Glu447Asp

Select item 146773131517.

rs1467731315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65187999 (GRCh38)
11:64955470 (GRCh37)
Canonical SPDI:: NC_000011.10:65187998:C:T
Gene:: CAPN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.65187999C>T, NC_000011.9:g.64955470C>T, NG_052817.1:g.11785C>T, NM_005186.4:c.888C>T, NM_005186.3:c.888C>T, NM_001198869.2:c.888C>T, NM_001198869.1:c.888C>T, NM_001198868.2:c.888C>T, NM_001198868.1:c.888C>T, NR_040008.2:n.905C>T, NR_040008.1:n.1000C>T, XM_006718698.3:c.888C>T, XM_006718698.2:c.888C>T, XM_006718698.1:c.888C>T, XM_011545292.2:c.888C>T, XM_011545292.1:c.888C>T, NM_001198870.1:c.726C>T

Select item 146651773118.

rs1466517731 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:65188453 (GRCh38)
11:64955924 (GRCh37)
Canonical SPDI:: NC_000011.10:65188452:C:G
Gene:: CAPN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.65188453C>G, NC_000011.9:g.64955924C>G, NG_052817.1:g.12239C>G, NM_005186.4:c.969C>G, NM_005186.3:c.969C>G, NM_001198869.2:c.969C>G, NM_001198869.1:c.969C>G, NM_001198868.2:c.969C>G, NM_001198868.1:c.969C>G, NR_040008.2:n.986C>G, NR_040008.1:n.1081C>G, XM_006718698.3:c.969C>G, XM_006718698.2:c.969C>G, XM_006718698.1:c.969C>G, XM_011545292.2:c.969C>G, XM_011545292.1:c.969C>G, NM_001198870.1:c.807C>G, NP_005177.2:p.Asp323Glu, NP_001185798.1:p.Asp323Glu, NP_001185797.1:p.Asp323Glu, XP_006718761.1:p.Asp323Glu, XP_011543594.1:p.Asp323Glu

Select item 146518388619.

rs1465183886 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:65188033 (GRCh38)
11:64955504 (GRCh37)
Canonical SPDI:: NC_000011.10:65188032:A:G
Gene:: CAPN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.65188033A>G, NC_000011.9:g.64955504A>G, NG_052817.1:g.11819A>G, NM_005186.4:c.922A>G, NM_005186.3:c.922A>G, NM_001198869.2:c.922A>G, NM_001198869.1:c.922A>G, NM_001198868.2:c.922A>G, NM_001198868.1:c.922A>G, NR_040008.2:n.939A>G, NR_040008.1:n.1034A>G, XM_006718698.3:c.922A>G, XM_006718698.2:c.922A>G, XM_006718698.1:c.922A>G, XM_011545292.2:c.922A>G, XM_011545292.1:c.922A>G, NM_001198870.1:c.760A>G, NP_005177.2:p.Ser308Gly, NP_001185798.1:p.Ser308Gly, NP_001185797.1:p.Ser308Gly, XP_006718761.1:p.Ser308Gly, XP_011543594.1:p.Ser308Gly

Select item 146315469020.

rs1463154690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:65182770 (GRCh38)
11:64950241 (GRCh37)
Canonical SPDI:: NC_000011.10:65182769:C:T
Gene:: CAPN1 (Varview), CAPN1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.65182770C>T, NC_000011.9:g.64950241C>T, NG_052817.1:g.6556C>T, NM_005186.4:c.69C>T, NM_005186.3:c.69C>T, NM_001198869.2:c.69C>T, NM_001198869.1:c.69C>T, NM_001198868.2:c.69C>T, NM_001198868.1:c.69C>T, NR_040008.2:n.156C>T, NR_040008.1:n.251C>T, XM_006718698.3:c.69C>T, XM_006718698.2:c.69C>T, XM_006718698.1:c.69C>T, XM_011545292.2:c.69C>T, XM_011545292.1:c.69C>T, NM_001198870.1:c.-23C>T

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