Canonical Allele Identifier: CA126700

Gene: EPOR

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11378194C>T , CM000681.2:g.11378194C>T	GRCh38
NC_000019.9:g.11488870C>T , CM000681.1:g.11488870C>T	GRCh37
NC_000019.8:g.11349870C>T	NCBI36
NG_021395.1:g.11149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222139.11:c.1317G>A MANE Select	ENSP00000222139.5:p.Trp439Ter
ENST00000222139.10:c.1317G>A	ENSP00000222139.5:p.Trp439Ter
ENST00000586890.5:c.*1060G>A	ENSP00000467230.1:n.*1060G>A
ENST00000588681.5:n.1702G>A
ENST00000588859.5:c.*1060G>A	ENSP00000466784.1:n.*1060G>A
ENST00000591958.5:c.*695G>A	ENSP00000468187.1:n.*695G>A
ENST00000592375.6:c.*425G>A	ENSP00000467809.2:n.*425G>A
NM_000121.3:c.1317G>A	NP_000112.1:p.Trp439Ter
NR_033663.1:n.1702G>A
NM_000121.4:c.1317G>A MANE Select	NP_000112.1:p.Trp439Ter
NR_033663.2:n.1674G>A