Canonical Allele Identifier: CA345240075

Gene: EGLN1

Linked Data

• MyVariant Identifiers: chr1:g.231506326T>A (hg19) ; chr1:g.231370580T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370580T>A , CM000663.2:g.231370580T>A	GRCh38
NC_000001.10:g.231506326T>A , CM000663.1:g.231506326T>A	GRCh37
NC_000001.9:g.229572949T>A	NCBI36
NG_015865.1:g.59465A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1130A>T MANE Select	ENSP00000355601.3:p.Gln377Leu
ENST00000476717.2:n.407A>T
ENST00000653198.1:n.672A>T
ENST00000653908.1:c.151-2944A>T	ENSP00000499669.1:n.151-2944A>T
ENST00000654803.1:c.352A>T
ENST00000658954.1:c.504A>T
ENST00000662216.1:c.269A>T	ENSP00000499467.1:p.Gln90Leu
ENST00000663780.1:n.230A>T
ENST00000667629.1:c.316-2944A>T	ENSP00000499629.1:n.316-2944A>T
ENST00000670301.1:c.230-4105A>T
ENST00000366641.3:c.1130A>T	ENSP00000355601.3:p.Gln377Leu
ENST00000476717.1:n.407A>T
NM_022051.2:c.1130A>T	NP_071334.1:p.Gln377Leu
XM_005273166.3:c.1130A>T	XP_005273223.1:p.Gln377Leu
XM_005273167.3:c.1012-2944A>T	XP_005273224.1:n.1012-2944A>T
XM_005273166.5:c.1130A>T	XP_005273223.1:p.Gln377Leu
XM_005273167.5:c.1012-2944A>T	XP_005273224.1:n.1012-2944A>T
XM_024447734.1:c.1012-2944A>T	XP_024303502.1:n.1012-2944A>T
NM_001377260.1:c.1130A>T	NP_001364189.1:p.Gln377Leu
NM_001377261.1:c.1012-2944A>T	NP_001364190.1:n.1012-2944A>T
NM_022051.3:c.1130A>T MANE Select	NP_071334.1:p.Gln377Leu