Canonical Allele Identifier: CA4302610

Gene: HIP1

Linked Data

• dbSNP Id: rs781900428
• ExAC: 7:75211460 C / G
• gnomAD v2: 7-75211460-C-G
• gnomAD v4: 7-75582144-C-G
• MyVariant Identifiers: chr7:g.75211460C>G (hg19) ; chr7:g.75582144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582144C>G , CM000669.2:g.75582144C>G	GRCh38
NC_000007.13:g.75211460C>G , CM000669.1:g.75211460C>G	GRCh37
NC_000007.12:g.75049396C>G	NCBI36
NG_023251.2:g.161818G>C
NG_023251.3:g.161818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.473G>C MANE Select	ENSP00000336747.6:p.Arg158Thr
ENST00000336926.10:c.473G>C	ENSP00000336747.6:p.Arg158Thr
ENST00000420909.1:c.386G>C	ENSP00000414280.1:p.Arg129Thr
ENST00000434438.6:c.473G>C	ENSP00000410300.2:p.Arg158Thr
ENST00000616821.4:c.386G>C	ENSP00000484528.1:p.Arg129Thr
NM_001243198.2:c.473G>C	NP_001230127.1:p.Arg158Thr
NM_005338.6:c.473G>C	NP_005329.3:p.Arg158Thr
XM_005250304.2:c.386G>C	XP_005250361.1:p.Arg129Thr
XM_005250305.2:c.371G>C	XP_005250362.1:p.Arg124Thr
XM_011516116.1:c.473G>C	XP_011514418.1:p.Arg158Thr
XM_011516116.2:c.473G>C	XP_011514418.1:p.Arg158Thr
XM_017012099.1:c.431G>C	XP_016867588.1:p.Arg144Thr
NM_005338.7:c.473G>C MANE Select	NP_005329.3:p.Arg158Thr
NM_001243198.3:c.473G>C	NP_001230127.1:p.Arg158Thr
NM_001382444.1:c.371G>C	NP_001369373.1:p.Arg124Thr
NM_001382445.1:c.386G>C	NP_001369374.1:p.Arg129Thr