Canonical Allele Identifier: CA1141581454

Gene: EGLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370589T= , CM000663.2:g.231370589T=	GRCh38
NC_000001.10:g.231506335T= , CM000663.1:g.231506335T=	GRCh37
NC_000001.9:g.229572958T=	NCBI36
NG_015865.1:g.59456A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1121A= MANE Select	ENSP00000355601.3:p.His374=
ENST00000476717.2:n.398A=
ENST00000653198.1:n.663A=
ENST00000653908.1:c.151-2953A=	ENSP00000499669.1:n.151-2953A=
ENST00000654803.1:c.343A=
ENST00000658954.1:c.495A=
ENST00000662216.1:c.260A=	ENSP00000499467.1:p.His87=
ENST00000663780.1:n.221A=
ENST00000667629.1:c.316-2953A=	ENSP00000499629.1:n.316-2953A=
ENST00000670301.1:c.230-4114A=
ENST00000366641.3:c.1121A=	ENSP00000355601.3:p.His374=
ENST00000476717.1:n.398A=
NM_022051.2:c.1121A=	NP_071334.1:p.His374=
XM_005273166.3:c.1121A=	XP_005273223.1:p.His374=
XM_005273167.3:c.1012-2953A=	XP_005273224.1:n.1012-2953A=
XM_005273166.5:c.1121A=	XP_005273223.1:p.His374=
XM_005273167.5:c.1012-2953A=	XP_005273224.1:n.1012-2953A=
XM_024447734.1:c.1012-2953A=	XP_024303502.1:n.1012-2953A=
NM_001377260.1:c.1121A=	NP_001364189.1:p.His374=
NM_001377261.1:c.1012-2953A=	NP_001364190.1:n.1012-2953A=
NM_022051.3:c.1121A= MANE Select	NP_071334.1:p.His374=