Canonical Allele Identifier: CA1345062139

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149791T= , CM000665.2:g.10149791T=	GRCh38
NC_000003.11:g.10191475T= , CM000665.1:g.10191475T=	GRCh37
NC_000003.10:g.10166475T=	NCBI36
NG_008212.3:g.13157T= , LRG_322:g.13157T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*145T=	ENSP00000512434.1:n.*145T=
ENST00000696143.1:c.604T=	ENSP00000512435.1:n.604T=
ENST00000696153.1:c.579T=	ENSP00000512444.1:p.Tyr193=
ENST00000256474.3:c.468T= MANE Select	ENSP00000256474.3:p.Tyr156=
ENST00000256474.2:c.468T=	ENSP00000256474.2:p.Tyr156=
ENST00000345392.2:c.345T=	ENSP00000344757.2:p.Tyr115=
ENST00000477538.1:n.604T=
NM_000551.3:c.468T= , LRG_322t1:c.468T=	NP_000542.1:p.Tyr156=
NM_198156.2:c.345T=	NP_937799.1:p.Tyr115=
NM_001354723.1:c.*22T=	NP_001341652.1:n.*22T=
NM_000551.4:c.468T= MANE Select	NP_000542.1:p.Tyr156=
NM_001354723.2:c.*22T=	NP_001341652.1:n.*22T=
NM_198156.3:c.345T=	NP_937799.1:p.Tyr115=