Canonical Allele Identifier: CA2683363044

Gene: HIP1

Linked Data

• gnomAD v4: 7-75581949-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75581949C>A , CM000669.2:g.75581949C>A	GRCh38
NC_000007.13:g.75211265C>A , CM000669.1:g.75211265C>A	GRCh37
NC_000007.12:g.75049201C>A	NCBI36
NG_023251.2:g.162013G>T
NG_023251.3:g.162013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.542+126G>T MANE Select	ENSP00000336747.6:n.542+126G>T
ENST00000336926.10:c.542+126G>T	ENSP00000336747.6:n.542+126G>T
ENST00000434438.6:c.542+126G>T	ENSP00000410300.2:n.542+126G>T
ENST00000616821.4:c.455+126G>T	ENSP00000484528.1:n.455+126G>T
NM_001243198.2:c.542+126G>T	NP_001230127.1:n.542+126G>T
NM_005338.6:c.542+126G>T	NP_005329.3:n.542+126G>T
XM_005250304.2:c.455+126G>T	XP_005250361.1:n.455+126G>T
XM_005250305.2:c.440+126G>T	XP_005250362.1:n.440+126G>T
XM_011516116.1:c.542+126G>T	XP_011514418.1:n.542+126G>T
XM_011516116.2:c.542+126G>T	XP_011514418.1:n.542+126G>T
XM_017012099.1:c.500+126G>T	XP_016867588.1:n.500+126G>T
NM_005338.7:c.542+126G>T MANE Select	NP_005329.3:n.542+126G>T
NM_001243198.3:c.542+126G>T	NP_001230127.1:n.542+126G>T
NM_001382444.1:c.440+126G>T	NP_001369373.1:n.440+126G>T
NM_001382445.1:c.455+126G>T	NP_001369374.1:n.455+126G>T