Canonical Allele Identifier: CA10860096

Gene: EGLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.231406910C>T , CM000663.2:g.231406910C>T	GRCh38
NC_000001.10:g.231542656C>T , CM000663.1:g.231542656C>T	GRCh37
NC_000001.9:g.229609279C>T	NCBI36
NG_015865.1:g.23135G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366641.4:c.891+14088G>A MANE Select	ENSP00000355601.3:n.891+14088G>A
ENST00000476717.2:n.168+13266G>A
ENST00000653198.1:n.434-32811G>A
ENST00000653908.1:c.31-32811G>A	ENSP00000499669.1:n.31-32811G>A
ENST00000654803.1:c.113+14088G>A
ENST00000658954.1:c.265+14088G>A
ENST00000662216.1:c.31-32811G>A	ENSP00000499467.1:n.31-32811G>A
ENST00000667629.1:c.195+14088G>A	ENSP00000499629.1:n.195+14088G>A
ENST00000670301.1:c.229+14088G>A
ENST00000366641.3:c.891+14088G>A	ENSP00000355601.3:n.891+14088G>A
ENST00000476717.1:n.168+13266G>A
NM_022051.2:c.891+14088G>A	NP_071334.1:n.891+14088G>A
XM_005273166.3:c.891+14088G>A	XP_005273223.1:n.891+14088G>A
XM_005273167.3:c.891+14088G>A	XP_005273224.1:n.891+14088G>A
XM_005273166.5:c.891+14088G>A	XP_005273223.1:n.891+14088G>A
XM_005273167.5:c.891+14088G>A	XP_005273224.1:n.891+14088G>A
XM_024447734.1:c.891+14088G>A	XP_024303502.1:n.891+14088G>A
NM_001377260.1:c.891+14088G>A	NP_001364189.1:n.891+14088G>A
NM_001377261.1:c.891+14088G>A	NP_001364190.1:n.891+14088G>A
NM_022051.3:c.891+14088G>A MANE Select	NP_071334.1:n.891+14088G>A