Canonical Allele Identifier: CA7016917

Gene: GPC6 GPC6-AS2

Linked Data

• dbSNP Id: rs756566538
• ExAC: 13:94482824 C / T
• gnomAD v2: 13-94482824-C-T
• gnomAD v4: 13-93830571-C-T
• MyVariant Identifiers: chr13:g.94482824C>T (hg19) ; chr13:g.93830571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.93830571C>T , CM000675.2:g.93830571C>T	GRCh38
NC_000013.10:g.94482824C>T , CM000675.1:g.94482824C>T	GRCh37
NC_000013.9:g.93280825C>T	NCBI36
NG_011880.1:g.608747C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377047.9:c.711+26C>T (GPC6) MANE Select	ENSP00000366246.3:n.711+26C>T
ENST00000377047.8:c.711+26C>T (GPC6)	ENSP00000366246.3:n.711+26C>T
NM_005708.3:c.711+26C>T (GPC6)	NP_005699.1:n.711+26C>T
NR_046536.1:n.380+245G>A (GPC6-AS2)
XM_011521044.1:c.501+26C>T (GPC6)	XP_011519346.1:n.501+26C>T
NM_005708.4:c.711+26C>T (GPC6)	NP_005699.1:n.711+26C>T
XM_011521044.2:c.501+26C>T (GPC6)	XP_011519346.1:n.501+26C>T
XM_017020298.1:c.501+26C>T (GPC6)	XP_016875787.1:n.501+26C>T
XM_017020299.2:c.501+26C>T (GPC6)	XP_016875788.1:n.501+26C>T
XM_017020300.1:c.501+26C>T (GPC6)	XP_016875789.1:n.501+26C>T
XM_017020301.1:c.345+26C>T (GPC6)	XP_016875790.1:n.345+26C>T
NM_005708.5:c.711+26C>T (GPC6) MANE Select	NP_005699.1:n.711+26C>T