Canonical Allele Identifier: CA345240103

Gene: EGLN1

Linked Data

• MyVariant Identifiers: chr1:g.231506329A>T (hg19) ; chr1:g.231370583A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231370583A>T , CM000663.2:g.231370583A>T	GRCh38
NC_000001.10:g.231506329A>T , CM000663.1:g.231506329A>T	GRCh37
NC_000001.9:g.229572952A>T	NCBI36
NG_015865.1:g.59462T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.1127T>A MANE Select	ENSP00000355601.3:p.Val376Glu
ENST00000476717.2:n.404T>A
ENST00000653198.1:n.669T>A
ENST00000653908.1:c.151-2947T>A	ENSP00000499669.1:n.151-2947T>A
ENST00000654803.1:c.349T>A
ENST00000658954.1:c.501T>A
ENST00000662216.1:c.266T>A	ENSP00000499467.1:p.Val89Glu
ENST00000663780.1:n.227T>A
ENST00000667629.1:c.316-2947T>A	ENSP00000499629.1:n.316-2947T>A
ENST00000670301.1:c.230-4108T>A
ENST00000366641.3:c.1127T>A	ENSP00000355601.3:p.Val376Glu
ENST00000476717.1:n.404T>A
NM_022051.2:c.1127T>A	NP_071334.1:p.Val376Glu
XM_005273166.3:c.1127T>A	XP_005273223.1:p.Val376Glu
XM_005273167.3:c.1012-2947T>A	XP_005273224.1:n.1012-2947T>A
XM_005273166.5:c.1127T>A	XP_005273223.1:p.Val376Glu
XM_005273167.5:c.1012-2947T>A	XP_005273224.1:n.1012-2947T>A
XM_024447734.1:c.1012-2947T>A	XP_024303502.1:n.1012-2947T>A
NM_001377260.1:c.1127T>A	NP_001364189.1:p.Val376Glu
NM_001377261.1:c.1012-2947T>A	NP_001364190.1:n.1012-2947T>A
NM_022051.3:c.1127T>A MANE Select	NP_071334.1:p.Val376Glu