Canonical Allele Identifier: CA13228553
Gene: SORCS1 HGNC NCBI

Linked Data

dbSNP Id: rs600879
gnomAD v2: 10-108923118-C-T
gnomAD v3: 10-107163360-C-T
gnomAD v4: 10-107163360-C-T
MyVariant Identifiers: chr10:g.108923118C>T (hg19) chr10:g.107163360C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.107163360C>T , CM000672.2:g.107163360C>T GRCh38
NC_000010.10:g.108923118C>T , CM000672.1:g.108923118C>T GRCh37
NC_000010.9:g.108913108C>T NCBI36
NG_029120.1:g.6349G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263054.11:c.558+609G>A MANE Select ENSP00000263054.5:n.558+609G>A
ENST00000263054.10:c.558+609G>A ENSP00000263054.5:n.558+609G>A
NM_001013031.2:c.558+609G>A NP_001013049.1:n.558+609G>A
NM_001206569.1:c.558+609G>A NP_001193498.1:n.558+609G>A
NM_001206570.1:c.558+609G>A NP_001193499.1:n.558+609G>A
NM_001206571.1:c.558+609G>A NP_001193500.1:n.558+609G>A
NM_001206572.1:c.558+609G>A NP_001193501.1:n.558+609G>A
NM_052918.4:c.558+609G>A NP_443150.3:n.558+609G>A
XM_011539199.1:c.558+609G>A XP_011537501.1:n.558+609G>A
XM_011539200.1:c.558+609G>A XP_011537502.1:n.558+609G>A
XM_011539201.1:c.558+609G>A XP_011537503.1:n.558+609G>A
XM_011539204.1:c.3+17704G>A XP_011537506.1:n.3+17704G>A
XM_011539206.1:c.558+609G>A XP_011537508.1:n.558+609G>A
XM_011539199.3:c.558+609G>A XP_011537501.1:n.558+609G>A
XM_011539201.3:c.558+609G>A XP_011537503.1:n.558+609G>A
XM_017015614.2:c.558+609G>A XP_016871103.1:n.558+609G>A
XM_017015615.2:c.558+609G>A XP_016871104.1:n.558+609G>A
XM_017015617.1:c.3+17704G>A XP_016871106.1:n.3+17704G>A
NM_001013031.3:c.558+609G>A NP_001013049.1:n.558+609G>A
NM_001206569.2:c.558+609G>A NP_001193498.1:n.558+609G>A
NM_001206570.2:c.558+609G>A NP_001193499.1:n.558+609G>A
NM_001206571.2:c.558+609G>A NP_001193500.1:n.558+609G>A
NM_001206572.2:c.558+609G>A NP_001193501.1:n.558+609G>A
NM_052918.5:c.558+609G>A MANE Select NP_443150.3:n.558+609G>A
NM_001387556.1:c.558+609G>A NP_001374485.1:n.558+609G>A
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