Canonical Allele Identifier: CA7016744

Gene: GPC6

Linked Data

• ClinVar Variation Id: 282088
• ClinVar RCV Id: RCV000267947 ; RCV000894368 ; RCV001113912 ; RCV003920044
• dbSNP Id: rs200925249
• ExAC: 13:93879719 T / A
• gnomAD v2: 13-93879719-T-A
• gnomAD v3: 13-93227466-T-A
• gnomAD v4: 13-93227466-T-A
• COSMIC: COSM5016814
• MyVariant Identifiers: chr13:g.93879719T>A (hg19) ; chr13:g.93227466T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93227466T>A , CM000675.2:g.93227466T>A	GRCh38
NC_000013.10:g.93879719T>A , CM000675.1:g.93879719T>A	GRCh37
NC_000013.9:g.92677720T>A	NCBI36
NG_011880.1:g.5642T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.10T>A MANE Select	ENSP00000366246.3:p.Trp4Arg
ENST00000377047.8:c.10T>A	ENSP00000366246.3:p.Trp4Arg
NM_005708.3:c.10T>A	NP_005699.1:p.Trp4Arg
NM_005708.4:c.10T>A	NP_005699.1:p.Trp4Arg
NM_005708.5:c.10T>A MANE Select	NP_005699.1:p.Trp4Arg