Canonical Allele Identifier: CA367727366

Gene: HIP1

Linked Data

• MyVariant Identifiers: chr7:g.75211456G>T (hg19) ; chr7:g.75582140G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.75582140G>T , CM000669.2:g.75582140G>T	GRCh38
NC_000007.13:g.75211456G>T , CM000669.1:g.75211456G>T	GRCh37
NC_000007.12:g.75049392G>T	NCBI36
NG_023251.2:g.161822C>A
NG_023251.3:g.161822C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336926.11:c.477C>A MANE Select	ENSP00000336747.6:p.Phe159Leu
ENST00000336926.10:c.477C>A	ENSP00000336747.6:p.Phe159Leu
ENST00000420909.1:c.390C>A	ENSP00000414280.1:p.Phe130Leu
ENST00000434438.6:c.477C>A	ENSP00000410300.2:p.Phe159Leu
ENST00000616821.4:c.390C>A	ENSP00000484528.1:p.Phe130Leu
NM_001243198.2:c.477C>A	NP_001230127.1:p.Phe159Leu
NM_005338.6:c.477C>A	NP_005329.3:p.Phe159Leu
XM_005250304.2:c.390C>A	XP_005250361.1:p.Phe130Leu
XM_005250305.2:c.375C>A	XP_005250362.1:p.Phe125Leu
XM_011516116.1:c.477C>A	XP_011514418.1:p.Phe159Leu
XM_011516116.2:c.477C>A	XP_011514418.1:p.Phe159Leu
XM_017012099.1:c.435C>A	XP_016867588.1:p.Phe145Leu
NM_005338.7:c.477C>A MANE Select	NP_005329.3:p.Phe159Leu
NM_001243198.3:c.477C>A	NP_001230127.1:p.Phe159Leu
NM_001382444.1:c.375C>A	NP_001369373.1:p.Phe125Leu
NM_001382445.1:c.390C>A	NP_001369374.1:p.Phe130Leu