Canonical Allele Identifier: CA1345062763

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149899A= , CM000665.2:g.10149899A=	GRCh38
NC_000003.11:g.10191583A= , CM000665.1:g.10191583A=	GRCh37
NC_000003.10:g.10166583A=	NCBI36
NG_008212.3:g.13265A= , LRG_322:g.13265A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*253A=	ENSP00000512434.1:n.*253A=
ENST00000696143.1:c.712A=	ENSP00000512435.1:n.712A=
ENST00000696153.1:c.687A=	ENSP00000512444.1:p.Pro229=
ENST00000256474.3:c.576A= MANE Select	ENSP00000256474.3:p.Pro192=
ENST00000256474.2:c.576A=	ENSP00000256474.2:p.Pro192=
ENST00000345392.2:c.453A=	ENSP00000344757.2:p.Pro151=
ENST00000477538.1:n.712A=
NM_000551.3:c.576A= , LRG_322t1:c.576A=	NP_000542.1:p.Pro192=
NM_198156.2:c.453A=	NP_937799.1:p.Pro151=
NM_001354723.1:c.*130A=	NP_001341652.1:n.*130A=
NM_000551.4:c.576A= MANE Select	NP_000542.1:p.Pro192=
NM_001354723.2:c.*130A=	NP_001341652.1:n.*130A=
NM_198156.3:c.453A=	NP_937799.1:p.Pro151=