SNP Links for Protein (Select 221316614) - SNP

Links from Protein

Items: 1 to 20 of 573

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Select item 14897878041.

rs1489787804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150508259 (GRCh38)
1:150480735 (GRCh37)
Canonical SPDI:: NC_000001.11:150508258:C:A
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150508259C>A, NC_000001.10:g.150480735C>A, NG_034226.1:g.25896C>A, NG_012062.1:g.5249C>A, NM_004425.4:c.50C>A, NM_004425.3:c.50C>A, NM_022664.3:c.50C>A, NM_022664.2:c.50C>A, NM_001202858.2:c.50C>A, NM_001202858.1:c.50C>A, NP_004416.2:p.Ala17Asp, NP_073155.2:p.Ala17Asp, NP_001189787.1:p.Ala17Asp

Select item 14894505602.

rs1489450560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150513335 (GRCh38)
1:150485811 (GRCh37)
Canonical SPDI:: NC_000001.11:150513334:C:T
Gene:: ECM1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150513335C>T, NC_000001.10:g.150485811C>T, NG_012062.1:g.10325C>T, NM_004425.4:c.1491C>T, NM_004425.3:c.1491C>T, NM_022664.3:c.1116C>T, NM_022664.2:c.1116C>T, NM_001202858.2:c.1572C>T, NM_001202858.1:c.1572C>T

Select item 14868044763.

rs1486804476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150512754 (GRCh38)
1:150485230 (GRCh37)
Canonical SPDI:: NC_000001.11:150512753:T:C
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000001.11:g.150512754T>C, NC_000001.10:g.150485230T>C, NG_012062.1:g.9744T>C, NM_004425.4:c.1334T>C, NM_004425.3:c.1334T>C, NM_022664.3:c.959T>C, NM_022664.2:c.959T>C, NM_001202858.2:c.1415T>C, NM_001202858.1:c.1415T>C, NP_004416.2:p.Met445Thr, NP_073155.2:p.Met320Thr, NP_001189787.1:p.Met472Thr

Select item 14848314554.

rs1484831455 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:150510171 (GRCh38)
1:150482647 (GRCh37)
Canonical SPDI:: NC_000001.11:150510170:AA:A
Gene:: ECM1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150510172del, NC_000001.10:g.150482648del, NG_012062.1:g.7162del, NM_004425.4:c.375del, NM_004425.3:c.375del, NM_022664.3:c.375del, NM_022664.2:c.375del, NM_001202858.2:c.456del, NM_001202858.1:c.456del, NP_004416.2:p.Glu125fs, NP_073155.2:p.Glu125fs, NP_001189787.1:p.Glu152fs

Select item 14842057525.

rs1484205752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150509552 (GRCh38)
1:150482028 (GRCh37)
Canonical SPDI:: NC_000001.11:150509551:G:C
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.150509552G>C, NC_000001.10:g.150482028G>C, NG_034226.1:g.27189G>C, NG_012062.1:g.6542G>C, NM_004425.4:c.92G>C, NM_004425.3:c.92G>C, NM_022664.3:c.92G>C, NM_022664.2:c.92G>C, NM_001202858.2:c.92G>C, NM_001202858.1:c.92G>C, NP_004416.2:p.Arg31Thr, NP_073155.2:p.Arg31Thr, NP_001189787.1:p.Arg31Thr

Select item 14822688126.

rs1482268812 has merged into rs869025564 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:150510990 (GRCh38)
1:150483467 (GRCh37)
Canonical SPDI:: NC_000001.11:150510990:CCCCCC:CCCCCCC
Gene:: ECM1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0.230235/4706 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/1 (ExAC)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.00008/1 (GoESP)
HGVS:: NC_000001.11:g.150510996dup, NC_000001.10:g.150483472dup, NG_012062.1:g.7986dup, NM_004425.4:c.506dup, NM_004425.3:c.506dup, NM_022664.3:c.506dup, NM_022664.2:c.506dup, NM_001202858.2:c.587dup, NM_001202858.1:c.587dup, NP_004416.2:p.Gly170fs, NP_073155.2:p.Gly170fs, NP_001189787.1:p.Gly197fs

Select item 14813307987.

rs1481330798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:150512477 (GRCh38)
1:150484954 (GRCh37)
Canonical SPDI:: NC_000001.11:150512477:AA:AAA
Gene:: ECM1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.150512479dup, NC_000001.10:g.150484955dup, NG_012062.1:g.9469dup, NM_004425.4:c.1211dup, NM_004425.3:c.1211dup, NM_022664.3:c.836dup, NM_022664.2:c.836dup, NM_001202858.2:c.1292dup, NM_001202858.1:c.1292dup, NP_004416.2:p.Asn404fs, NP_073155.2:p.Asn279fs, NP_001189787.1:p.Asn431fs

Select item 14807072358.

rs1480707235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150511690 (GRCh38)
1:150484166 (GRCh37)
Canonical SPDI:: NC_000001.11:150511689:C:G
Gene:: ECM1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.150511690C>G, NC_000001.10:g.150484166C>G, NG_012062.1:g.8680C>G, NM_004425.4:c.942C>G, NM_004425.3:c.942C>G, NM_001202858.2:c.1023C>G, NM_001202858.1:c.1023C>G, NP_004416.2:p.His314Gln, NP_001189787.1:p.His341Gln

Select item 14800433329.

rs1480043332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:150510956 (GRCh38)
1:150483432 (GRCh37)
Canonical SPDI:: NC_000001.11:150510955:T:A
Gene:: ECM1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.150510956T>A, NC_000001.10:g.150483432T>A, NG_012062.1:g.7946T>A, NM_004425.4:c.466T>A, NM_004425.3:c.466T>A, NM_022664.3:c.466T>A, NM_022664.2:c.466T>A, NM_001202858.2:c.547T>A, NM_001202858.1:c.547T>A, NP_004416.2:p.Ser156Thr, NP_073155.2:p.Ser156Thr, NP_001189787.1:p.Ser183Thr

Select item 147483643210.

rs1474836432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150508273 (GRCh38)
1:150480749 (GRCh37)
Canonical SPDI:: NC_000001.11:150508272:G:A
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150508273G>A, NC_000001.10:g.150480749G>A, NG_034226.1:g.25910G>A, NG_012062.1:g.5263G>A, NM_004425.4:c.64G>A, NM_004425.3:c.64G>A, NM_022664.3:c.64G>A, NM_022664.2:c.64G>A, NM_001202858.2:c.64G>A, NM_001202858.1:c.64G>A, NP_004416.2:p.Glu22Lys, NP_073155.2:p.Glu22Lys, NP_001189787.1:p.Glu22Lys

Select item 147221566011.

rs1472215660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150510159 (GRCh38)
1:150482635 (GRCh37)
Canonical SPDI:: NC_000001.11:150510158:A:G
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150510159A>G, NC_000001.10:g.150482635A>G, NG_012062.1:g.7149A>G, NM_004425.4:c.362A>G, NM_004425.3:c.362A>G, NM_022664.3:c.362A>G, NM_022664.2:c.362A>G, NM_001202858.2:c.443A>G, NM_001202858.1:c.443A>G, NP_004416.2:p.Gln121Arg, NP_073155.2:p.Gln121Arg, NP_001189787.1:p.Gln148Arg

Select item 147183535012.

rs1471835350 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:150510911 (GRCh38)
1:150483387 (GRCh37)
Canonical SPDI:: NC_000001.11:150510910:G:C
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150510911G>C, NC_000001.10:g.150483387G>C, NG_012062.1:g.7901G>C, NM_004425.4:c.421G>C, NM_004425.3:c.421G>C, NM_022664.3:c.421G>C, NM_022664.2:c.421G>C, NM_001202858.2:c.502G>C, NM_001202858.1:c.502G>C, NP_004416.2:p.Glu141Gln, NP_073155.2:p.Glu141Gln, NP_001189787.1:p.Glu168Gln

Select item 147067945013.

rs1470679450 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150512470 (GRCh38)
1:150484946 (GRCh37)
Canonical SPDI:: NC_000001.11:150512469:C:G
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.150512470C>G, NC_000001.10:g.150484946C>G, NG_012062.1:g.9460C>G, NM_004425.4:c.1202C>G, NM_004425.3:c.1202C>G, NM_022664.3:c.827C>G, NM_022664.2:c.827C>G, NM_001202858.2:c.1283C>G, NM_001202858.1:c.1283C>G, NP_004416.2:p.Pro401Arg, NP_073155.2:p.Pro276Arg, NP_001189787.1:p.Pro428Arg

Select item 146974099614.

rs1469740996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:150513355 (GRCh38)
1:150485831 (GRCh37)
Canonical SPDI:: NC_000001.11:150513354:T:G
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150513355T>G, NC_000001.10:g.150485831T>G, NG_012062.1:g.10345T>G, NM_004425.4:c.1511T>G, NM_004425.3:c.1511T>G, NM_022664.3:c.1136T>G, NM_022664.2:c.1136T>G, NM_001202858.2:c.1592T>G, NM_001202858.1:c.1592T>G, NP_004416.2:p.Leu504Arg, NP_073155.2:p.Leu379Arg, NP_001189787.1:p.Leu531Arg

Select item 146895668415.

rs1468956684 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:150511051 (GRCh38)
1:150483527 (GRCh37)
Canonical SPDI:: NC_000001.11:150511050:T:A,NC_000001.11:150511050:T:C
Gene:: ECM1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150511051T>A, NC_000001.11:g.150511051T>C, NC_000001.10:g.150483527T>A, NC_000001.10:g.150483527T>C, NG_012062.1:g.8041T>A, NG_012062.1:g.8041T>C, NM_004425.4:c.561T>A, NM_004425.4:c.561T>C, NM_004425.3:c.561T>A, NM_004425.3:c.561T>C, NM_022664.3:c.561T>A, NM_022664.3:c.561T>C, NM_022664.2:c.561T>A, NM_022664.2:c.561T>C, NM_001202858.2:c.642T>A, NM_001202858.2:c.642T>C, NM_001202858.1:c.642T>A, NM_001202858.1:c.642T>C, NP_004416.2:p.His187Gln, NP_073155.2:p.His187Gln, NP_001189787.1:p.His214Gln

Select item 146805132416.

rs1468051324 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150513261 (GRCh38)
1:150485737 (GRCh37)
Canonical SPDI:: NC_000001.11:150513260:T:C
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150513261T>C, NC_000001.10:g.150485737T>C, NG_012062.1:g.10251T>C, NM_004425.4:c.1417T>C, NM_004425.3:c.1417T>C, NM_022664.3:c.1042T>C, NM_022664.2:c.1042T>C, NM_001202858.2:c.1498T>C, NM_001202858.1:c.1498T>C, NP_004416.2:p.Cys473Arg, NP_073155.2:p.Cys348Arg, NP_001189787.1:p.Cys500Arg

Select item 146671722517.

rs1466717225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150512524 (GRCh38)
1:150485000 (GRCh37)
Canonical SPDI:: NC_000001.11:150512523:C:T
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150512524C>T, NC_000001.10:g.150485000C>T, NG_012062.1:g.9514C>T, NM_004425.4:c.1256C>T, NM_004425.3:c.1256C>T, NM_022664.3:c.881C>T, NM_022664.2:c.881C>T, NM_001202858.2:c.1337C>T, NM_001202858.1:c.1337C>T, NP_004416.2:p.Pro419Leu, NP_073155.2:p.Pro294Leu, NP_001189787.1:p.Pro446Leu

Select item 146660441918.

rs1466604419 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:150509678 (GRCh38)
1:150482154 (GRCh37)
Canonical SPDI:: NC_000001.11:150509677:C:A,NC_000001.11:150509677:C:G,NC_000001.11:150509677:C:T
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150509678C>A, NC_000001.11:g.150509678C>G, NC_000001.11:g.150509678C>T, NC_000001.10:g.150482154C>A, NC_000001.10:g.150482154C>G, NC_000001.10:g.150482154C>T, NG_012062.1:g.6668C>A, NG_012062.1:g.6668C>G, NG_012062.1:g.6668C>T, NM_004425.4:c.139C>A, NM_004425.4:c.139C>G, NM_004425.4:c.139C>T, NM_004425.3:c.139C>A, NM_004425.3:c.139C>G, NM_004425.3:c.139C>T, NM_022664.3:c.139C>A, NM_022664.3:c.139C>G, NM_022664.3:c.139C>T, NM_022664.2:c.139C>A, NM_022664.2:c.139C>G, NM_022664.2:c.139C>T, NM_001202858.2:c.139C>A, NM_001202858.2:c.139C>G, NM_001202858.2:c.139C>T, NM_001202858.1:c.139C>A, NM_001202858.1:c.139C>G, NM_001202858.1:c.139C>T, NP_004416.2:p.Pro47Thr, NP_004416.2:p.Pro47Ala, NP_004416.2:p.Pro47Ser, NP_073155.2:p.Pro47Thr, NP_073155.2:p.Pro47Ala, NP_073155.2:p.Pro47Ser, NP_001189787.1:p.Pro47Thr, NP_001189787.1:p.Pro47Ala, NP_001189787.1:p.Pro47Ser

Select item 146560212119.

rs1465602121 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:150510944 (GRCh38)
1:150483420 (GRCh37)
Canonical SPDI:: NC_000001.11:150510943:C:A
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.150510944C>A, NC_000001.10:g.150483420C>A, NG_012062.1:g.7934C>A, NM_004425.4:c.454C>A, NM_004425.3:c.454C>A, NM_022664.3:c.454C>A, NM_022664.2:c.454C>A, NM_001202858.2:c.535C>A, NM_001202858.1:c.535C>A, NP_004416.2:p.Gln152Lys, NP_073155.2:p.Gln152Lys, NP_001189787.1:p.Gln179Lys

Select item 146299631720.

rs1462996317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150508247 (GRCh38)
1:150480723 (GRCh37)
Canonical SPDI:: NC_000001.11:150508246:A:G
Gene:: ECM1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.150508247A>G, NC_000001.10:g.150480723A>G, NG_034226.1:g.25884A>G, NG_012062.1:g.5237A>G, NM_004425.4:c.38A>G, NM_004425.3:c.38A>G, NM_022664.3:c.38A>G, NM_022664.2:c.38A>G, NM_001202858.2:c.38A>G, NM_001202858.1:c.38A>G, NP_004416.2:p.Tyr13Cys, NP_073155.2:p.Tyr13Cys, NP_001189787.1:p.Tyr13Cys

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