Canonical Allele Identifier: CA404124987

Gene: EPOR

Linked Data

• dbSNP Id: rs121918116
• MyVariant Identifiers: chr19:g.11488870C>G (hg19) ; chr19:g.11378194C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000222139.11:c.1317G>C MANE Select	ENSP00000222139.5:p.Trp439Cys
ENST00000222139.10:c.1317G>C	ENSP00000222139.5:p.Trp439Cys
ENST00000586890.5:c.*1060G>C	ENSP00000467230.1:n.*1060G>C
ENST00000588681.5:n.1702G>C
ENST00000588859.5:c.*1060G>C	ENSP00000466784.1:n.*1060G>C
ENST00000591958.5:c.*695G>C	ENSP00000468187.1:n.*695G>C
ENST00000592375.6:c.*425G>C	ENSP00000467809.2:n.*425G>C
NM_000121.3:c.1317G>C	NP_000112.1:p.Trp439Cys
NR_033663.1:n.1702G>C
NM_000121.4:c.1317G>C MANE Select	NP_000112.1:p.Trp439Cys
NR_033663.2:n.1674G>C