Canonical Allele Identifier: CA10602669

Gene: EPOR

Linked Data

• ClinVar Variation Id: 268131
• ClinVar RCV Id: RCV000258849 ; RCV001293750
• dbSNP Id: rs121917830
• MyVariant Identifiers: chr19:g.11488871C>T (hg19) ; chr19:g.11378195C>T (hg38)
• PubMed: PMID:8506290 ; PMID:17488692 ; PMID:27831681

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11378195C>T , CM000681.2:g.11378195C>T	GRCh38
NC_000019.9:g.11488871C>T , CM000681.1:g.11488871C>T	GRCh37
NC_000019.8:g.11349871C>T	NCBI36
NG_021395.1:g.11148G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222139.11:c.1316G>A MANE Select	ENSP00000222139.5:p.Trp439Ter
ENST00000222139.10:c.1316G>A	ENSP00000222139.5:p.Trp439Ter
ENST00000586890.5:c.*1059G>A	ENSP00000467230.1:n.*1059G>A
ENST00000588681.5:n.1701G>A
ENST00000588859.5:c.*1059G>A	ENSP00000466784.1:n.*1059G>A
ENST00000591958.5:c.*694G>A	ENSP00000468187.1:n.*694G>A
ENST00000592375.6:c.*424G>A	ENSP00000467809.2:n.*424G>A
NM_000121.3:c.1316G>A	NP_000112.1:p.Trp439Ter
NR_033663.1:n.1701G>A
NM_000121.4:c.1316G>A MANE Select	NP_000112.1:p.Trp439Ter
NR_033663.2:n.1673G>A