Canonical Allele Identifier: CA159888471
Gene: HIP1 HGNC NCBI

Linked Data

dbSNP Id: rs778417160
gnomAD v3: 7-75582244-A-G
gnomAD v4: 7-75582244-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.75582244A>G , CM000669.2:g.75582244A>G GRCh38
NC_000007.13:g.75211560A>G , CM000669.1:g.75211560A>G GRCh37
NC_000007.12:g.75049496A>G NCBI36
NG_023251.2:g.161718T>C
NG_023251.3:g.161718T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336926.11:c.466-93T>C MANE Select ENSP00000336747.6:n.466-93T>C
ENST00000336926.10:c.466-93T>C ENSP00000336747.6:n.466-93T>C
ENST00000420909.1:c.379-93T>C ENSP00000414280.1:n.379-93T>C
ENST00000434438.6:c.466-93T>C ENSP00000410300.2:n.466-93T>C
ENST00000616821.4:c.379-93T>C ENSP00000484528.1:n.379-93T>C
NM_001243198.2:c.466-93T>C NP_001230127.1:n.466-93T>C
NM_005338.6:c.466-93T>C NP_005329.3:n.466-93T>C
XM_005250304.2:c.379-93T>C XP_005250361.1:n.379-93T>C
XM_005250305.2:c.364-93T>C XP_005250362.1:n.364-93T>C
XM_011516116.1:c.466-93T>C XP_011514418.1:n.466-93T>C
XM_011516116.2:c.466-93T>C XP_011514418.1:n.466-93T>C
XM_017012099.1:c.424-93T>C XP_016867588.1:n.424-93T>C
NM_005338.7:c.466-93T>C MANE Select NP_005329.3:n.466-93T>C
NM_001243198.3:c.466-93T>C NP_001230127.1:n.466-93T>C
NM_001382444.1:c.364-93T>C NP_001369373.1:n.364-93T>C
NM_001382445.1:c.379-93T>C NP_001369374.1:n.379-93T>C