Canonical Allele Identifier: CA367726952

Gene: HIP1

Linked Data

• MyVariant Identifiers: chr7:g.75211403T>G (hg19) ; chr7:g.75582087T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582087T>G , CM000669.2:g.75582087T>G	GRCh38
NC_000007.13:g.75211403T>G , CM000669.1:g.75211403T>G	GRCh37
NC_000007.12:g.75049339T>G	NCBI36
NG_023251.2:g.161875A>C
NG_023251.3:g.161875A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.530A>C MANE Select	ENSP00000336747.6:p.Asp177Ala
ENST00000336926.10:c.530A>C	ENSP00000336747.6:p.Asp177Ala
ENST00000434438.6:c.530A>C	ENSP00000410300.2:p.Asp177Ala
ENST00000616821.4:c.443A>C	ENSP00000484528.1:p.Asp148Ala
NM_001243198.2:c.530A>C	NP_001230127.1:p.Asp177Ala
NM_005338.6:c.530A>C	NP_005329.3:p.Asp177Ala
XM_005250304.2:c.443A>C	XP_005250361.1:p.Asp148Ala
XM_005250305.2:c.428A>C	XP_005250362.1:p.Asp143Ala
XM_011516116.1:c.530A>C	XP_011514418.1:p.Asp177Ala
XM_011516116.2:c.530A>C	XP_011514418.1:p.Asp177Ala
XM_017012099.1:c.488A>C	XP_016867588.1:p.Asp163Ala
NM_005338.7:c.530A>C MANE Select	NP_005329.3:p.Asp177Ala
NM_001243198.3:c.530A>C	NP_001230127.1:p.Asp177Ala
NM_001382444.1:c.428A>C	NP_001369373.1:p.Asp143Ala
NM_001382445.1:c.443A>C	NP_001369374.1:p.Asp148Ala