Canonical Allele Identifier: CA414705229

Gene: GPC3

Linked Data

• gnomAD v4: X-133753584-C-T
• MyVariant Identifiers: chrX:g.132887611C>T (hg19) ; chrX:g.133753584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753584C>T , CM000685.2:g.133753584C>T	GRCh38
NC_000023.10:g.132887611C>T , CM000685.1:g.132887611C>T	GRCh37
NC_000023.9:g.132715277C>T	NCBI36
NG_009286.1:g.237056G>A , LRG_505:g.237056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000406757.3:c.119G>A
ENST00000684880.1:c.*518G>A	ENSP00000510280.1:n.*518G>A
ENST00000689310.1:c.882G>A	ENSP00000510438.1:p.Met294Ile
ENST00000692084.1:c.124G>A
ENST00000370818.8:c.930G>A MANE Select	ENSP00000359854.3:p.Met310Ile
ENST00000394299.7:c.930G>A	ENSP00000377836.2:p.Met310Ile
ENST00000666673.1:n.124G>A
ENST00000370818.7:c.930G>A	ENSP00000359854.3:p.Met310Ile
ENST00000394299.6:c.930G>A	ENSP00000377836.2:p.Met310Ile
ENST00000406757.2:c.119G>A
ENST00000631057.2:c.768G>A	ENSP00000486325.1:p.Met256Ile
NM_001164617.1:c.930G>A	NP_001158089.1:p.Met310Ile
NM_001164618.1:c.882G>A	NP_001158090.1:p.Met294Ile
NM_001164619.1:c.768G>A	NP_001158091.1:p.Met256Ile
NM_004484.3:c.930G>A , LRG_505t1:c.930G>A	NP_004475.1:p.Met310Ile
XM_017029413.2:c.930G>A	XP_016884902.1:p.Met310Ile
NM_001164617.2:c.930G>A	NP_001158089.1:p.Met310Ile
NM_001164618.2:c.882G>A	NP_001158090.1:p.Met294Ile
NM_001164619.2:c.768G>A	NP_001158091.1:p.Met256Ile
NM_004484.4:c.930G>A MANE Select	NP_004475.1:p.Met310Ile