Canonical Allele Identifier: CA4302618

Gene: HIP1

Linked Data

• dbSNP Id: rs782671782
• ExAC: 7:75211488 G / T
• gnomAD v2: 7-75211488-G-T
• gnomAD v4: 7-75582172-G-T
• MyVariant Identifiers: chr7:g.75211488G>T (hg19) ; chr7:g.75582172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582172G>T , CM000669.2:g.75582172G>T	GRCh38
NC_000007.13:g.75211488G>T , CM000669.1:g.75211488G>T	GRCh37
NC_000007.12:g.75049424G>T	NCBI36
NG_023251.2:g.161790C>A
NG_023251.3:g.161790C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.466-21C>A MANE Select	ENSP00000336747.6:n.466-21C>A
ENST00000336926.10:c.466-21C>A	ENSP00000336747.6:n.466-21C>A
ENST00000420909.1:c.379-21C>A	ENSP00000414280.1:n.379-21C>A
ENST00000434438.6:c.466-21C>A	ENSP00000410300.2:n.466-21C>A
ENST00000616821.4:c.379-21C>A	ENSP00000484528.1:n.379-21C>A
NM_001243198.2:c.466-21C>A	NP_001230127.1:n.466-21C>A
NM_005338.6:c.466-21C>A	NP_005329.3:n.466-21C>A
XM_005250304.2:c.379-21C>A	XP_005250361.1:n.379-21C>A
XM_005250305.2:c.364-21C>A	XP_005250362.1:n.364-21C>A
XM_011516116.1:c.466-21C>A	XP_011514418.1:n.466-21C>A
XM_011516116.2:c.466-21C>A	XP_011514418.1:n.466-21C>A
XM_017012099.1:c.424-21C>A	XP_016867588.1:n.424-21C>A
NM_005338.7:c.466-21C>A MANE Select	NP_005329.3:n.466-21C>A
NM_001243198.3:c.466-21C>A	NP_001230127.1:n.466-21C>A
NM_001382444.1:c.364-21C>A	NP_001369373.1:n.364-21C>A
NM_001382445.1:c.379-21C>A	NP_001369374.1:n.379-21C>A