Canonical Allele Identifier: CA1345062460

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149847A= , CM000665.2:g.10149847A=	GRCh38
NC_000003.11:g.10191531A= , CM000665.1:g.10191531A=	GRCh37
NC_000003.10:g.10166531A=	NCBI36
NG_008212.3:g.13213A= , LRG_322:g.13213A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*201A=	ENSP00000512434.1:n.*201A=
ENST00000696143.1:c.660A=	ENSP00000512435.1:n.660A=
ENST00000696153.1:c.635A=	ENSP00000512444.1:p.Tyr212=
ENST00000256474.3:c.524A= MANE Select	ENSP00000256474.3:p.Tyr175=
ENST00000256474.2:c.524A=	ENSP00000256474.2:p.Tyr175=
ENST00000345392.2:c.401A=	ENSP00000344757.2:p.Tyr134=
ENST00000477538.1:n.660A=
NM_000551.3:c.524A= , LRG_322t1:c.524A=	NP_000542.1:p.Tyr175=
NM_198156.2:c.401A=	NP_937799.1:p.Tyr134=
NM_001354723.1:c.*78A=	NP_001341652.1:n.*78A=
NM_000551.4:c.524A= MANE Select	NP_000542.1:p.Tyr175=
NM_001354723.2:c.*78A=	NP_001341652.1:n.*78A=
NM_198156.3:c.401A=	NP_937799.1:p.Tyr134=