Canonical Allele Identifier: CA9210558

Gene: EPOR

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11378372G>A , CM000681.2:g.11378372G>A	GRCh38
NC_000019.9:g.11489048G>A , CM000681.1:g.11489048G>A	GRCh37
NC_000019.8:g.11350048G>A	NCBI36
NG_021395.1:g.10971C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000121.4:c.1139C>T MANE Select	NP_000112.1:p.Pro380Leu
ENST00000222139.11:c.1139C>T MANE Select	ENSP00000222139.5:p.Pro380Leu
NM_000121.3:c.1139C>T	NP_000112.1:p.Pro380Leu
NR_033663.1:n.1524C>T
NR_033663.2:n.1496C>T
ENST00000222139.10:c.1139C>T	ENSP00000222139.5:p.Pro380Leu
ENST00000586890.5:c.*882C>T	ENSP00000467230.1:n.*882C>T
ENST00000588681.5:n.1524C>T
ENST00000588859.5:c.*882C>T	ENSP00000466784.1:n.*882C>T
ENST00000590927.1:n.762C>T
ENST00000591958.5:c.*517C>T	ENSP00000468187.1:n.*517C>T
ENST00000592375.6:c.*247C>T	ENSP00000467809.2:n.*247C>T