Canonical Allele Identifier: CA414706652

Gene: GPC3

Linked Data

• MyVariant Identifiers: chrX:g.132888111A>G (hg19) ; chrX:g.133754084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133754084A>G , CM000685.2:g.133754084A>G	GRCh38
NC_000023.10:g.132888111A>G , CM000685.1:g.132888111A>G	GRCh37
NC_000023.9:g.132715777A>G	NCBI36
NG_009286.1:g.236556T>C , LRG_505:g.236556T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*18T>C	ENSP00000510280.1:n.*18T>C
ENST00000689310.1:c.382T>C	ENSP00000510438.1:p.Phe128Leu
ENST00000692630.1:n.560T>C
ENST00000370818.8:c.430T>C MANE Select	ENSP00000359854.3:p.Phe144Leu
ENST00000394299.7:c.430T>C	ENSP00000377836.2:p.Phe144Leu
ENST00000370818.7:c.430T>C	ENSP00000359854.3:p.Phe144Leu
ENST00000394299.6:c.430T>C	ENSP00000377836.2:p.Phe144Leu
ENST00000631057.2:c.268T>C	ENSP00000486325.1:p.Phe90Leu
NM_001164617.1:c.430T>C	NP_001158089.1:p.Phe144Leu
NM_001164618.1:c.382T>C	NP_001158090.1:p.Phe128Leu
NM_001164619.1:c.268T>C	NP_001158091.1:p.Phe90Leu
NM_004484.3:c.430T>C , LRG_505t1:c.430T>C	NP_004475.1:p.Phe144Leu
XM_017029413.2:c.430T>C	XP_016884902.1:p.Phe144Leu
NM_001164617.2:c.430T>C	NP_001158089.1:p.Phe144Leu
NM_001164618.2:c.382T>C	NP_001158090.1:p.Phe128Leu
NM_001164619.2:c.268T>C	NP_001158091.1:p.Phe90Leu
NM_004484.4:c.430T>C MANE Select	NP_004475.1:p.Phe144Leu