Canonical Allele Identifier: CA345240013

Gene: EGLN1

Linked Data

• gnomAD v4: 1-231370568-G-C
• MyVariant Identifiers: chr1:g.231506314G>C (hg19) ; chr1:g.231370568G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370568G>C , CM000663.2:g.231370568G>C	GRCh38
NC_000001.10:g.231506314G>C , CM000663.1:g.231506314G>C	GRCh37
NC_000001.9:g.229572937G>C	NCBI36
NG_015865.1:g.59477C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1142C>G MANE Select	ENSP00000355601.3:p.Ala381Gly
ENST00000476717.2:n.419C>G
ENST00000653198.1:n.684C>G
ENST00000653908.1:c.151-2932C>G	ENSP00000499669.1:n.151-2932C>G
ENST00000654803.1:c.364C>G
ENST00000658954.1:c.516C>G
ENST00000662216.1:c.281C>G	ENSP00000499467.1:p.Ala94Gly
ENST00000663780.1:n.242C>G
ENST00000667629.1:c.316-2932C>G	ENSP00000499629.1:n.316-2932C>G
ENST00000670301.1:c.230-4093C>G
ENST00000366641.3:c.1142C>G	ENSP00000355601.3:p.Ala381Gly
ENST00000476717.1:n.419C>G
NM_022051.2:c.1142C>G	NP_071334.1:p.Ala381Gly
XM_005273166.3:c.1142C>G	XP_005273223.1:p.Ala381Gly
XM_005273167.3:c.1012-2932C>G	XP_005273224.1:n.1012-2932C>G
XM_005273166.5:c.1142C>G	XP_005273223.1:p.Ala381Gly
XM_005273167.5:c.1012-2932C>G	XP_005273224.1:n.1012-2932C>G
XM_024447734.1:c.1012-2932C>G	XP_024303502.1:n.1012-2932C>G
NM_001377260.1:c.1142C>G	NP_001364189.1:p.Ala381Gly
NM_001377261.1:c.1012-2932C>G	NP_001364190.1:n.1012-2932C>G
NM_022051.3:c.1142C>G MANE Select	NP_071334.1:p.Ala381Gly