Canonical Allele Identifier: CA367727092

Gene: HIP1

Linked Data

• MyVariant Identifiers: chr7:g.75211417C>A (hg19) ; chr7:g.75582101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582101C>A , CM000669.2:g.75582101C>A	GRCh38
NC_000007.13:g.75211417C>A , CM000669.1:g.75211417C>A	GRCh37
NC_000007.12:g.75049353C>A	NCBI36
NG_023251.2:g.161861G>T
NG_023251.3:g.161861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.516G>T MANE Select	ENSP00000336747.6:p.Glu172Asp
ENST00000336926.10:c.516G>T	ENSP00000336747.6:p.Glu172Asp
ENST00000420909.1:c.429G>T	ENSP00000414280.1:p.Glu143Asp
ENST00000434438.6:c.516G>T	ENSP00000410300.2:p.Glu172Asp
ENST00000616821.4:c.429G>T	ENSP00000484528.1:p.Glu143Asp
NM_001243198.2:c.516G>T	NP_001230127.1:p.Glu172Asp
NM_005338.6:c.516G>T	NP_005329.3:p.Glu172Asp
XM_005250304.2:c.429G>T	XP_005250361.1:p.Glu143Asp
XM_005250305.2:c.414G>T	XP_005250362.1:p.Glu138Asp
XM_011516116.1:c.516G>T	XP_011514418.1:p.Glu172Asp
XM_011516116.2:c.516G>T	XP_011514418.1:p.Glu172Asp
XM_017012099.1:c.474G>T	XP_016867588.1:p.Glu158Asp
NM_005338.7:c.516G>T MANE Select	NP_005329.3:p.Glu172Asp
NM_001243198.3:c.516G>T	NP_001230127.1:p.Glu172Asp
NM_001382444.1:c.414G>T	NP_001369373.1:p.Glu138Asp
NM_001382445.1:c.429G>T	NP_001369374.1:p.Glu143Asp