Canonical Allele Identifier: CA400370127

Gene: MPO

Linked Data

• MyVariant Identifiers: chr17:g.56350897T>A (hg19) ; chr17:g.58273536T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273536T>A , CM000679.2:g.58273536T>A	GRCh38
NC_000017.10:g.56350897T>A , CM000679.1:g.56350897T>A	GRCh37
NC_000017.9:g.53705896T>A	NCBI36
NG_009629.1:g.12400A>T , LRG_84:g.12400A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.832A>T
ENST00000699291.1:c.624A>T	ENSP00000514272.1:n.624A>T
ENST00000699292.1:n.539A>T
ENST00000225275.4:c.1499A>T MANE Select	ENSP00000225275.3:p.Tyr500Phe
ENST00000225275.3:c.1499A>T	ENSP00000225275.3:p.Tyr500Phe
NM_000250.1:c.1499A>T , LRG_84t1:c.1499A>T	NP_000241.1:p.Tyr500Phe
XM_011524821.1:c.1685A>T	XP_011523123.1:p.Tyr562Phe
XM_011524822.1:c.1214A>T	XP_011523124.1:p.Tyr405Phe
XM_011524823.1:c.*48A>T	XP_011523125.1:n.*48A>T
NM_000250.2:c.1499A>T MANE Select	NP_000241.1:p.Tyr500Phe