Canonical Allele Identifier: CA367727161

Gene: HIP1

Linked Data

• gnomAD v4: 7-75582110-C-A
• MyVariant Identifiers: chr7:g.75211426C>A (hg19) ; chr7:g.75582110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582110C>A , CM000669.2:g.75582110C>A	GRCh38
NC_000007.13:g.75211426C>A , CM000669.1:g.75211426C>A	GRCh37
NC_000007.12:g.75049362C>A	NCBI36
NG_023251.2:g.161852G>T
NG_023251.3:g.161852G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.507G>T MANE Select	ENSP00000336747.6:p.Gln169His
ENST00000336926.10:c.507G>T	ENSP00000336747.6:p.Gln169His
ENST00000420909.1:c.420G>T	ENSP00000414280.1:p.Gln140His
ENST00000434438.6:c.507G>T	ENSP00000410300.2:p.Gln169His
ENST00000616821.4:c.420G>T	ENSP00000484528.1:p.Gln140His
NM_001243198.2:c.507G>T	NP_001230127.1:p.Gln169His
NM_005338.6:c.507G>T	NP_005329.3:p.Gln169His
XM_005250304.2:c.420G>T	XP_005250361.1:p.Gln140His
XM_005250305.2:c.405G>T	XP_005250362.1:p.Gln135His
XM_011516116.1:c.507G>T	XP_011514418.1:p.Gln169His
XM_011516116.2:c.507G>T	XP_011514418.1:p.Gln169His
XM_017012099.1:c.465G>T	XP_016867588.1:p.Gln155His
NM_005338.7:c.507G>T MANE Select	NP_005329.3:p.Gln169His
NM_001243198.3:c.507G>T	NP_001230127.1:p.Gln169His
NM_001382444.1:c.405G>T	NP_001369373.1:p.Gln135His
NM_001382445.1:c.420G>T	NP_001369374.1:p.Gln140His