Canonical Allele Identifier: CA404129379

Gene: EPOR

Linked Data

• MyVariant Identifiers: chr19:g.11491875A>T (hg19) ; chr19:g.11381199A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11381199A>T , CM000681.2:g.11381199A>T	GRCh38
NC_000019.9:g.11491875A>T , CM000681.1:g.11491875A>T	GRCh37
NC_000019.8:g.11352875A>T	NCBI36
NG_021395.1:g.8144T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222139.11:c.596T>A MANE Select	ENSP00000222139.5:p.Leu199Gln
ENST00000222139.10:c.596T>A	ENSP00000222139.5:p.Leu199Gln
ENST00000586890.5:c.*339T>A	ENSP00000467230.1:n.*339T>A
ENST00000588681.5:n.981T>A
ENST00000588859.5:c.*339T>A	ENSP00000466784.1:n.*339T>A
ENST00000589402.1:n.755T>A
ENST00000590927.1:n.40T>A
ENST00000591958.5:c.805T>A	ENSP00000468187.1:p.Trp269Arg
ENST00000592375.6:c.596T>A	ENSP00000467809.2:p.Leu199Gln
NM_000121.3:c.596T>A	NP_000112.1:p.Leu199Gln
NR_033663.1:n.981T>A
NM_000121.4:c.596T>A MANE Select	NP_000112.1:p.Leu199Gln
NR_033663.2:n.953T>A