Canonical Allele Identifier: CA423904896

Gene: EGLN1

Linked Data

• COSMIC: COSM5725744
• MyVariant Identifiers: chr1:g.231506349G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370603G>A , CM000663.2:g.231370603G>A	GRCh38
NC_000001.10:g.231506349G>A , CM000663.1:g.231506349G>A	GRCh37
NC_000001.9:g.229572972G>A	NCBI36
NG_015865.1:g.59442C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366641.4:c.1107C>T MANE Select	ENSP00000355601.3:p.Asp369=
ENST00000476717.2:n.384C>T
ENST00000653198.1:n.649C>T
ENST00000653908.1:c.151-2967C>T	ENSP00000499669.1:n.151-2967C>T
ENST00000654803.1:c.329C>T
ENST00000658954.1:c.481C>T
ENST00000662216.1:c.246C>T	ENSP00000499467.1:p.Asp82=
ENST00000663780.1:n.207C>T
ENST00000667629.1:c.316-2967C>T	ENSP00000499629.1:n.316-2967C>T
ENST00000670301.1:c.230-4128C>T
ENST00000366641.3:c.1107C>T	ENSP00000355601.3:p.Asp369=
ENST00000476717.1:n.384C>T
NM_022051.2:c.1107C>T	NP_071334.1:p.Asp369=
XM_005273166.3:c.1107C>T	XP_005273223.1:p.Asp369=
XM_005273167.3:c.1012-2967C>T	XP_005273224.1:n.1012-2967C>T
XM_005273166.5:c.1107C>T	XP_005273223.1:p.Asp369=
XM_005273167.5:c.1012-2967C>T	XP_005273224.1:n.1012-2967C>T
XM_024447734.1:c.1012-2967C>T	XP_024303502.1:n.1012-2967C>T
NM_001377260.1:c.1107C>T	NP_001364189.1:p.Asp369=
NM_001377261.1:c.1012-2967C>T	NP_001364190.1:n.1012-2967C>T
NM_022051.3:c.1107C>T MANE Select	NP_071334.1:p.Asp369=