Canonical Allele Identifier: CA4302599
Gene: HIP1 HGNC NCBI

Linked Data

dbSNP Id: rs782185749
gnomAD v2: 7-75211402-G-A
gnomAD v4: 7-75582086-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75582086G>A , CM000669.2:g.75582086G>A GRCh38
NC_000007.13:g.75211402G>A , CM000669.1:g.75211402G>A GRCh37
NC_000007.12:g.75049338G>A NCBI36
NG_023251.2:g.161876C>T
NG_023251.3:g.161876C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336926.11:c.531C>T MANE Select ENSP00000336747.6:p.Asp177=
ENST00000336926.10:c.531C>T ENSP00000336747.6:p.Asp177=
ENST00000434438.6:c.531C>T ENSP00000410300.2:p.Asp177=
ENST00000616821.4:c.444C>T ENSP00000484528.1:p.Asp148=
NM_001243198.2:c.531C>T NP_001230127.1:p.Asp177=
NM_005338.6:c.531C>T NP_005329.3:p.Asp177=
XM_005250304.2:c.444C>T XP_005250361.1:p.Asp148=
XM_005250305.2:c.429C>T XP_005250362.1:p.Asp143=
XM_011516116.1:c.531C>T XP_011514418.1:p.Asp177=
XM_011516116.2:c.531C>T XP_011514418.1:p.Asp177=
XM_017012099.1:c.489C>T XP_016867588.1:p.Asp163=
NM_005338.7:c.531C>T MANE Select NP_005329.3:p.Asp177=
NM_001243198.3:c.531C>T NP_001230127.1:p.Asp177=
NM_001382444.1:c.429C>T NP_001369373.1:p.Asp143=
NM_001382445.1:c.444C>T NP_001369374.1:p.Asp148=