Canonical Allele Identifier: CA651266504
Gene: HIP1 HGNC NCBI

Linked Data

gnomAD v4: 7-75582012-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75582012T>A , CM000669.2:g.75582012T>A GRCh38
NC_000007.13:g.75211328T>A , CM000669.1:g.75211328T>A GRCh37
NC_000007.12:g.75049264T>A NCBI36
NG_023251.2:g.161950A>T
NG_023251.3:g.161950A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336926.11:c.542+63A>T MANE Select ENSP00000336747.6:n.542+63A>T
ENST00000336926.10:c.542+63A>T ENSP00000336747.6:n.542+63A>T
ENST00000434438.6:c.542+63A>T ENSP00000410300.2:n.542+63A>T
ENST00000616821.4:c.455+63A>T ENSP00000484528.1:n.455+63A>T
NM_001243198.2:c.542+63A>T NP_001230127.1:n.542+63A>T
NM_005338.6:c.542+63A>T NP_005329.3:n.542+63A>T
XM_005250304.2:c.455+63A>T XP_005250361.1:n.455+63A>T
XM_005250305.2:c.440+63A>T XP_005250362.1:n.440+63A>T
XM_011516116.1:c.542+63A>T XP_011514418.1:n.542+63A>T
XM_011516116.2:c.542+63A>T XP_011514418.1:n.542+63A>T
XM_017012099.1:c.500+63A>T XP_016867588.1:n.500+63A>T
NM_005338.7:c.542+63A>T MANE Select NP_005329.3:n.542+63A>T
NM_001243198.3:c.542+63A>T NP_001230127.1:n.542+63A>T
NM_001382444.1:c.440+63A>T NP_001369373.1:n.440+63A>T
NM_001382445.1:c.455+63A>T NP_001369374.1:n.455+63A>T