Canonical Allele Identifier: CA4302607

Gene: HIP1

Linked Data

• dbSNP Id: rs587675702
• ExAC: 7:75211430 C / T
• gnomAD v2: 7-75211430-C-T
• gnomAD v3: 7-75582114-C-T
• gnomAD v4: 7-75582114-C-T
• MyVariant Identifiers: chr7:g.75211430C>T (hg19) ; chr7:g.75582114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582114C>T , CM000669.2:g.75582114C>T	GRCh38
NC_000007.13:g.75211430C>T , CM000669.1:g.75211430C>T	GRCh37
NC_000007.12:g.75049366C>T	NCBI36
NG_023251.2:g.161848G>A
NG_023251.3:g.161848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.503G>A MANE Select	ENSP00000336747.6:p.Arg168His
ENST00000336926.10:c.503G>A	ENSP00000336747.6:p.Arg168His
ENST00000420909.1:c.416G>A	ENSP00000414280.1:p.Arg139His
ENST00000434438.6:c.503G>A	ENSP00000410300.2:p.Arg168His
ENST00000616821.4:c.416G>A	ENSP00000484528.1:p.Arg139His
NM_001243198.2:c.503G>A	NP_001230127.1:p.Arg168His
NM_005338.6:c.503G>A	NP_005329.3:p.Arg168His
XM_005250304.2:c.416G>A	XP_005250361.1:p.Arg139His
XM_005250305.2:c.401G>A	XP_005250362.1:p.Arg134His
XM_011516116.1:c.503G>A	XP_011514418.1:p.Arg168His
XM_011516116.2:c.503G>A	XP_011514418.1:p.Arg168His
XM_017012099.1:c.461G>A	XP_016867588.1:p.Arg154His
NM_005338.7:c.503G>A MANE Select	NP_005329.3:p.Arg168His
NM_001243198.3:c.503G>A	NP_001230127.1:p.Arg168His
NM_001382444.1:c.401G>A	NP_001369373.1:p.Arg134His
NM_001382445.1:c.416G>A	NP_001369374.1:p.Arg139His