Canonical Allele Identifier: CA367727222

Gene: HIP1

Linked Data

• dbSNP Id: rs1584829745
• gnomAD v4: 7-75582122-C-G
• MyVariant Identifiers: chr7:g.75211438C>G (hg19) ; chr7:g.75582122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582122C>G , CM000669.2:g.75582122C>G	GRCh38
NC_000007.13:g.75211438C>G , CM000669.1:g.75211438C>G	GRCh37
NC_000007.12:g.75049374C>G	NCBI36
NG_023251.2:g.161840G>C
NG_023251.3:g.161840G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.495G>C MANE Select	ENSP00000336747.6:p.Met165Ile
ENST00000336926.10:c.495G>C	ENSP00000336747.6:p.Met165Ile
ENST00000420909.1:c.408G>C	ENSP00000414280.1:p.Met136Ile
ENST00000434438.6:c.495G>C	ENSP00000410300.2:p.Met165Ile
ENST00000616821.4:c.408G>C	ENSP00000484528.1:p.Met136Ile
NM_001243198.2:c.495G>C	NP_001230127.1:p.Met165Ile
NM_005338.6:c.495G>C	NP_005329.3:p.Met165Ile
XM_005250304.2:c.408G>C	XP_005250361.1:p.Met136Ile
XM_005250305.2:c.393G>C	XP_005250362.1:p.Met131Ile
XM_011516116.1:c.495G>C	XP_011514418.1:p.Met165Ile
XM_011516116.2:c.495G>C	XP_011514418.1:p.Met165Ile
XM_017012099.1:c.453G>C	XP_016867588.1:p.Met151Ile
NM_005338.7:c.495G>C MANE Select	NP_005329.3:p.Met165Ile
NM_001243198.3:c.495G>C	NP_001230127.1:p.Met165Ile
NM_001382444.1:c.393G>C	NP_001369373.1:p.Met131Ile
NM_001382445.1:c.408G>C	NP_001369374.1:p.Met136Ile