Canonical Allele Identifier: CA400369913

Gene: MPO

Linked Data

• MyVariant Identifiers: chr17:g.56350849T>A (hg19) ; chr17:g.58273488T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273488T>A , CM000679.2:g.58273488T>A	GRCh38
NC_000017.10:g.56350849T>A , CM000679.1:g.56350849T>A	GRCh37
NC_000017.9:g.53705848T>A	NCBI36
NG_009629.1:g.12448A>T , LRG_84:g.12448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.880A>T
ENST00000699291.1:c.672A>T	ENSP00000514272.1:n.672A>T
ENST00000699292.1:n.587A>T
ENST00000225275.4:c.1547A>T MANE Select	ENSP00000225275.3:p.Tyr516Phe
ENST00000225275.3:c.1547A>T	ENSP00000225275.3:p.Tyr516Phe
ENST00000577220.1:c.5A>T	ENSP00000464668.1:p.Tyr2Phe
NM_000250.1:c.1547A>T , LRG_84t1:c.1547A>T	NP_000241.1:p.Tyr516Phe
XM_011524821.1:c.1733A>T	XP_011523123.1:p.Tyr578Phe
XM_011524822.1:c.1262A>T	XP_011523124.1:p.Tyr421Phe
XM_011524823.1:c.*96A>T	XP_011523125.1:n.*96A>T
NM_000250.2:c.1547A>T MANE Select	NP_000241.1:p.Tyr516Phe