Canonical Allele Identifier: CA1141188315

Gene: EGLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231374041G= , CM000663.2:g.231374041G=	GRCh38
NC_000001.10:g.231509787G= , CM000663.1:g.231509787G=	GRCh37
NC_000001.9:g.229576410G=	NCBI36
NG_015865.1:g.56004C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.950C= MANE Select	ENSP00000355601.3:p.Pro317=
ENST00000476717.2:n.227C=
ENST00000653198.1:n.492C=
ENST00000653908.1:c.89C=	ENSP00000499669.1:p.Pro30=
ENST00000654803.1:c.172C=
ENST00000658954.1:c.324C=
ENST00000662216.1:c.89C=	ENSP00000499467.1:p.Pro30=
ENST00000663780.1:n.50C=
ENST00000667629.1:c.254C=	ENSP00000499629.1:p.Pro85=
ENST00000670301.1:c.230-7566C=
ENST00000366641.3:c.950C=	ENSP00000355601.3:p.Pro317=
ENST00000476717.1:n.227C=
NM_022051.2:c.950C=	NP_071334.1:p.Pro317=
XM_005273166.3:c.950C=	XP_005273223.1:p.Pro317=
XM_005273167.3:c.950C=	XP_005273224.1:p.Pro317=
XM_005273166.5:c.950C=	XP_005273223.1:p.Pro317=
XM_005273167.5:c.950C=	XP_005273224.1:p.Pro317=
XM_024447734.1:c.950C=	XP_024303502.1:p.Pro317=
NM_001377260.1:c.950C=	NP_001364189.1:p.Pro317=
NM_001377261.1:c.950C=	NP_001364190.1:p.Pro317=
NM_022051.3:c.950C= MANE Select	NP_071334.1:p.Pro317=