Canonical Allele Identifier: CA4302598

Gene: HIP1

Linked Data

• dbSNP Id: rs782348540
• ExAC: 7:75211401 C / T
• gnomAD v2: 7-75211401-C-T
• gnomAD v3: 7-75582085-C-T
• gnomAD v4: 7-75582085-C-T
• MyVariant Identifiers: chr7:g.75211401C>T (hg19) ; chr7:g.75582085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582085C>T , CM000669.2:g.75582085C>T	GRCh38
NC_000007.13:g.75211401C>T , CM000669.1:g.75211401C>T	GRCh37
NC_000007.12:g.75049337C>T	NCBI36
NG_023251.2:g.161877G>A
NG_023251.3:g.161877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.532G>A MANE Select	ENSP00000336747.6:p.Val178Met
ENST00000336926.10:c.532G>A	ENSP00000336747.6:p.Val178Met
ENST00000434438.6:c.532G>A	ENSP00000410300.2:p.Val178Met
ENST00000616821.4:c.445G>A	ENSP00000484528.1:p.Val149Met
NM_001243198.2:c.532G>A	NP_001230127.1:p.Val178Met
NM_005338.6:c.532G>A	NP_005329.3:p.Val178Met
XM_005250304.2:c.445G>A	XP_005250361.1:p.Val149Met
XM_005250305.2:c.430G>A	XP_005250362.1:p.Val144Met
XM_011516116.1:c.532G>A	XP_011514418.1:p.Val178Met
XM_011516116.2:c.532G>A	XP_011514418.1:p.Val178Met
XM_017012099.1:c.490G>A	XP_016867588.1:p.Val164Met
NM_005338.7:c.532G>A MANE Select	NP_005329.3:p.Val178Met
NM_001243198.3:c.532G>A	NP_001230127.1:p.Val178Met
NM_001382444.1:c.430G>A	NP_001369373.1:p.Val144Met
NM_001382445.1:c.445G>A	NP_001369374.1:p.Val149Met