Canonical Allele Identifier: CA3637387

Gene: HIVEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12122277G>A , CM000668.2:g.12122277G>A	GRCh38
NC_000006.11:g.12122510G>A , CM000668.1:g.12122510G>A	GRCh37
NC_000006.10:g.12230496G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379388.7:c.2482G>A MANE Select	ENSP00000368698.2:p.Val828Ile
ENST00000379388.6:c.2482G>A	ENSP00000368698.2:p.Val828Ile
ENST00000442081.6:c.166+2343G>A	ENSP00000409078.2:n.166+2343G>A
ENST00000541134.5:c.2482G>A	ENSP00000445617.2:p.Val828Ile
ENST00000627968.2:c.-3822G>A	ENSP00000486543.1:n.-3822G>A
NM_002114.3:c.2482G>A	NP_002105.3:p.Val828Ile
XM_011514545.1:c.2554G>A	XP_011512847.1:p.Val852Ile
XM_011514546.1:c.2509G>A	XP_011512848.1:p.Val837Ile
XM_011514547.1:c.2509G>A	XP_011512849.1:p.Val837Ile
XM_011514548.1:c.2509G>A	XP_011512850.1:p.Val837Ile
XM_011514549.1:c.2509G>A	XP_011512851.1:p.Val837Ile
XM_011514550.1:c.2509G>A	XP_011512852.1:p.Val837Ile
XM_011514551.1:c.2482G>A	XP_011512853.1:p.Val828Ile
XM_011514552.1:c.2482G>A	XP_011512854.1:p.Val828Ile
XM_011514553.1:c.2482G>A	XP_011512855.1:p.Val828Ile
XM_011514554.1:c.2428G>A	XP_011512856.1:p.Val810Ile
XM_011514555.1:c.2449G>A	XP_011512857.1:p.Val817Ile
XM_011514546.2:c.2509G>A	XP_011512848.1:p.Val837Ile
XM_011514547.2:c.2509G>A	XP_011512849.1:p.Val837Ile
XM_011514548.2:c.2509G>A	XP_011512850.1:p.Val837Ile
XM_011514549.3:c.2509G>A	XP_011512851.1:p.Val837Ile
XM_011514550.2:c.2509G>A	XP_011512852.1:p.Val837Ile
XM_011514551.2:c.2482G>A	XP_011512853.1:p.Val828Ile
XM_011514552.2:c.2482G>A	XP_011512854.1:p.Val828Ile
XM_011514555.3:c.2449G>A	XP_011512857.1:p.Val817Ile
XM_017010800.1:c.2509G>A	XP_016866289.1:p.Val837Ile
XM_017010801.1:c.2509G>A	XP_016866290.1:p.Val837Ile
XM_017010802.1:c.2509G>A	XP_016866291.1:p.Val837Ile
XM_017010803.1:c.2509G>A	XP_016866292.1:p.Val837Ile
XM_017010804.1:c.2509G>A	XP_016866293.1:p.Val837Ile
XR_001743372.1:n.3707G>A
NM_002114.4:c.2482G>A MANE Select	NP_002105.3:p.Val828Ile