Canonical Allele Identifier: CA345237355

Gene: EGLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231421509C>A , CM000663.2:g.231421509C>A	GRCh38
NC_000001.10:g.231557255C>A , CM000663.1:g.231557255C>A	GRCh37
NC_000001.9:g.229623878C>A	NCBI36
NG_015865.1:g.8536G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.380G>T MANE Select	ENSP00000355601.3:p.Cys127Phe
ENST00000653198.1:n.433+40963G>T
ENST00000653908.1:c.30+40929G>T	ENSP00000499669.1:n.30+40929G>T
ENST00000662216.1:c.30+40929G>T	ENSP00000499467.1:n.30+40929G>T
ENST00000366641.3:c.380G>T	ENSP00000355601.3:p.Cys127Phe
NM_022051.2:c.380G>T	NP_071334.1:p.Cys127Phe
XM_005273166.3:c.380G>T	XP_005273223.1:p.Cys127Phe
XM_005273167.3:c.380G>T	XP_005273224.1:p.Cys127Phe
XM_005273166.5:c.380G>T	XP_005273223.1:p.Cys127Phe
XM_005273167.5:c.380G>T	XP_005273224.1:p.Cys127Phe
XM_024447734.1:c.380G>T	XP_024303502.1:p.Cys127Phe
NM_001377260.1:c.380G>T	NP_001364189.1:p.Cys127Phe
NM_001377261.1:c.380G>T	NP_001364190.1:p.Cys127Phe
NM_022051.3:c.380G>T MANE Select	NP_071334.1:p.Cys127Phe