Canonical Allele Identifier: CA367727196
Gene: HIP1 HGNC NCBI

Linked Data

gnomAD v4: 7-75582118-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75582118C>A , CM000669.2:g.75582118C>A GRCh38
NC_000007.13:g.75211434C>A , CM000669.1:g.75211434C>A GRCh37
NC_000007.12:g.75049370C>A NCBI36
NG_023251.2:g.161844G>T
NG_023251.3:g.161844G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336926.11:c.499G>T MANE Select ENSP00000336747.6:p.Asp167Tyr
ENST00000336926.10:c.499G>T ENSP00000336747.6:p.Asp167Tyr
ENST00000420909.1:c.412G>T ENSP00000414280.1:p.Asp138Tyr
ENST00000434438.6:c.499G>T ENSP00000410300.2:p.Asp167Tyr
ENST00000616821.4:c.412G>T ENSP00000484528.1:p.Asp138Tyr
NM_001243198.2:c.499G>T NP_001230127.1:p.Asp167Tyr
NM_005338.6:c.499G>T NP_005329.3:p.Asp167Tyr
XM_005250304.2:c.412G>T XP_005250361.1:p.Asp138Tyr
XM_005250305.2:c.397G>T XP_005250362.1:p.Asp133Tyr
XM_011516116.1:c.499G>T XP_011514418.1:p.Asp167Tyr
XM_011516116.2:c.499G>T XP_011514418.1:p.Asp167Tyr
XM_017012099.1:c.457G>T XP_016867588.1:p.Asp153Tyr
NM_005338.7:c.499G>T MANE Select NP_005329.3:p.Asp167Tyr
NM_001243198.3:c.499G>T NP_001230127.1:p.Asp167Tyr
NM_001382444.1:c.397G>T NP_001369373.1:p.Asp133Tyr
NM_001382445.1:c.412G>T NP_001369374.1:p.Asp138Tyr