Canonical Allele Identifier: CA367727259

Gene: HIP1

Linked Data

• MyVariant Identifiers: chr7:g.75211445A>C (hg19) ; chr7:g.75582129A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582129A>C , CM000669.2:g.75582129A>C	GRCh38
NC_000007.13:g.75211445A>C , CM000669.1:g.75211445A>C	GRCh37
NC_000007.12:g.75049381A>C	NCBI36
NG_023251.2:g.161833T>G
NG_023251.3:g.161833T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.488T>G MANE Select	ENSP00000336747.6:p.Leu163Arg
ENST00000336926.10:c.488T>G	ENSP00000336747.6:p.Leu163Arg
ENST00000420909.1:c.401T>G	ENSP00000414280.1:p.Leu134Arg
ENST00000434438.6:c.488T>G	ENSP00000410300.2:p.Leu163Arg
ENST00000616821.4:c.401T>G	ENSP00000484528.1:p.Leu134Arg
NM_001243198.2:c.488T>G	NP_001230127.1:p.Leu163Arg
NM_005338.6:c.488T>G	NP_005329.3:p.Leu163Arg
XM_005250304.2:c.401T>G	XP_005250361.1:p.Leu134Arg
XM_005250305.2:c.386T>G	XP_005250362.1:p.Leu129Arg
XM_011516116.1:c.488T>G	XP_011514418.1:p.Leu163Arg
XM_011516116.2:c.488T>G	XP_011514418.1:p.Leu163Arg
XM_017012099.1:c.446T>G	XP_016867588.1:p.Leu149Arg
NM_005338.7:c.488T>G MANE Select	NP_005329.3:p.Leu163Arg
NM_001243198.3:c.488T>G	NP_001230127.1:p.Leu163Arg
NM_001382444.1:c.386T>G	NP_001369373.1:p.Leu129Arg
NM_001382445.1:c.401T>G	NP_001369374.1:p.Leu134Arg