Canonical Allele Identifier: CA3638382

Gene: HIVEP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12163635C>T , CM000668.2:g.12163635C>T	GRCh38
NC_000006.11:g.12163868C>T , CM000668.1:g.12163868C>T	GRCh37
NC_000006.10:g.12271854C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379388.7:c.7331C>T MANE Select	ENSP00000368698.2:p.Thr2444Met
ENST00000379388.6:c.7331C>T	ENSP00000368698.2:p.Thr2444Met
ENST00000399469.2:c.1145C>T
ENST00000541134.5:c.7328C>T	ENSP00000445617.2:p.Thr2443Met
ENST00000627968.2:c.926C>T	ENSP00000486543.1:p.Thr309Met
NM_002114.3:c.7331C>T	NP_002105.3:p.Thr2444Met
XM_011514545.1:c.7403C>T	XP_011512847.1:p.Thr2468Met
XM_011514546.1:c.7358C>T	XP_011512848.1:p.Thr2453Met
XM_011514547.1:c.7358C>T	XP_011512849.1:p.Thr2453Met
XM_011514548.1:c.7358C>T	XP_011512850.1:p.Thr2453Met
XM_011514549.1:c.7358C>T	XP_011512851.1:p.Thr2453Met
XM_011514550.1:c.7358C>T	XP_011512852.1:p.Thr2453Met
XM_011514551.1:c.7331C>T	XP_011512853.1:p.Thr2444Met
XM_011514552.1:c.7331C>T	XP_011512854.1:p.Thr2444Met
XM_011514553.1:c.7331C>T	XP_011512855.1:p.Thr2444Met
XM_011514554.1:c.7277C>T	XP_011512856.1:p.Thr2426Met
XM_011514555.1:c.7298C>T	XP_011512857.1:p.Thr2433Met
XM_011514546.2:c.7358C>T	XP_011512848.1:p.Thr2453Met
XM_011514547.2:c.7358C>T	XP_011512849.1:p.Thr2453Met
XM_011514548.2:c.7358C>T	XP_011512850.1:p.Thr2453Met
XM_011514549.3:c.7358C>T	XP_011512851.1:p.Thr2453Met
XM_011514550.2:c.7358C>T	XP_011512852.1:p.Thr2453Met
XM_011514551.2:c.7331C>T	XP_011512853.1:p.Thr2444Met
XM_011514552.2:c.7331C>T	XP_011512854.1:p.Thr2444Met
XM_011514555.3:c.7298C>T	XP_011512857.1:p.Thr2433Met
XM_017010800.1:c.7358C>T	XP_016866289.1:p.Thr2453Met
XM_017010801.1:c.7358C>T	XP_016866290.1:p.Thr2453Met
XM_017010802.1:c.7358C>T	XP_016866291.1:p.Thr2453Met
XM_017010803.1:c.7256C>T	XP_016866292.1:p.Thr2419Met
XR_001743372.1:n.7713-15946C>T
NM_002114.4:c.7331C>T MANE Select	NP_002105.3:p.Thr2444Met