Canonical Allele Identifier: CA345239996

Gene: EGLN1

Linked Data

• MyVariant Identifiers: chr1:g.231506308C>G (hg19) ; chr1:g.231370562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370562C>G , CM000663.2:g.231370562C>G	GRCh38
NC_000001.10:g.231506308C>G , CM000663.1:g.231506308C>G	GRCh37
NC_000001.9:g.229572931C>G	NCBI36
NG_015865.1:g.59483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1148G>C MANE Select	ENSP00000355601.3:p.Arg383Thr
ENST00000476717.2:n.425G>C
ENST00000653198.1:n.690G>C
ENST00000653908.1:c.151-2926G>C	ENSP00000499669.1:n.151-2926G>C
ENST00000654803.1:c.370G>C
ENST00000658954.1:c.522G>C
ENST00000662216.1:c.287G>C	ENSP00000499467.1:p.Arg96Thr
ENST00000663780.1:n.248G>C
ENST00000667629.1:c.316-2926G>C	ENSP00000499629.1:n.316-2926G>C
ENST00000670301.1:c.230-4087G>C
ENST00000366641.3:c.1148G>C	ENSP00000355601.3:p.Arg383Thr
ENST00000476717.1:n.425G>C
NM_022051.2:c.1148G>C	NP_071334.1:p.Arg383Thr
XM_005273166.3:c.1148G>C	XP_005273223.1:p.Arg383Thr
XM_005273167.3:c.1012-2926G>C	XP_005273224.1:n.1012-2926G>C
XM_005273166.5:c.1148G>C	XP_005273223.1:p.Arg383Thr
XM_005273167.5:c.1012-2926G>C	XP_005273224.1:n.1012-2926G>C
XM_024447734.1:c.1012-2926G>C	XP_024303502.1:n.1012-2926G>C
NM_001377260.1:c.1148G>C	NP_001364189.1:p.Arg383Thr
NM_001377261.1:c.1012-2926G>C	NP_001364190.1:n.1012-2926G>C
NM_022051.3:c.1148G>C MANE Select	NP_071334.1:p.Arg383Thr