Canonical Allele Identifier: CA1345065421
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142008T= , CM000665.2:g.10142008T= GRCh38
NC_000003.11:g.10183692T= , CM000665.1:g.10183692T= GRCh37
NC_000003.10:g.10158692T= NCBI36
NG_008212.3:g.5374T= , LRG_322:g.5374T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.161T= ENSP00000512434.1:p.Met54=
ENST00000696143.1:c.161T= ENSP00000512435.1:p.Met54=
ENST00000696153.1:c.161T= ENSP00000512444.1:p.Met54=
ENST00000256474.3:c.161T= MANE Select ENSP00000256474.3:p.Met54=
ENST00000256474.2:c.161T= ENSP00000256474.2:p.Met54=
ENST00000345392.2:c.161T= ENSP00000344757.2:p.Met54=
NM_000551.3:c.161T= , LRG_322t1:c.161T= NP_000542.1:p.Met54=
NM_198156.2:c.161T= NP_937799.1:p.Met54=
XM_011534078.1:c.161T= XP_011532380.1:p.Met54=
NM_001354723.1:c.161T= NP_001341652.1:p.Met54=
NM_000551.4:c.161T= MANE Select NP_000542.1:p.Met54=
NM_001354723.2:c.161T= NP_001341652.1:p.Met54=
NM_198156.3:c.161T= NP_937799.1:p.Met54=