Canonical Allele Identifier: CA414705941

Gene: GPC3

Linked Data

• MyVariant Identifiers: chrX:g.132887793T>G (hg19) ; chrX:g.133753766T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.133753766T>G , CM000685.2:g.133753766T>G	GRCh38
NC_000023.10:g.132887793T>G , CM000685.1:g.132887793T>G	GRCh37
NC_000023.9:g.132715459T>G	NCBI36
NG_009286.1:g.236874A>C , LRG_505:g.236874A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684880.1:c.*336A>C	ENSP00000510280.1:n.*336A>C
ENST00000689310.1:c.700A>C	ENSP00000510438.1:p.Lys234Gln
ENST00000370818.8:c.748A>C MANE Select	ENSP00000359854.3:p.Lys250Gln
ENST00000394299.7:c.748A>C	ENSP00000377836.2:p.Lys250Gln
ENST00000370818.7:c.748A>C	ENSP00000359854.3:p.Lys250Gln
ENST00000394299.6:c.748A>C	ENSP00000377836.2:p.Lys250Gln
ENST00000631057.2:c.586A>C	ENSP00000486325.1:p.Lys196Gln
NM_001164617.1:c.748A>C	NP_001158089.1:p.Lys250Gln
NM_001164618.1:c.700A>C	NP_001158090.1:p.Lys234Gln
NM_001164619.1:c.586A>C	NP_001158091.1:p.Lys196Gln
NM_004484.3:c.748A>C , LRG_505t1:c.748A>C	NP_004475.1:p.Lys250Gln
XM_017029413.2:c.748A>C	XP_016884902.1:p.Lys250Gln
NM_001164617.2:c.748A>C	NP_001158089.1:p.Lys250Gln
NM_001164618.2:c.700A>C	NP_001158090.1:p.Lys234Gln
NM_001164619.2:c.586A>C	NP_001158091.1:p.Lys196Gln
NM_004484.4:c.748A>C MANE Select	NP_004475.1:p.Lys250Gln