Canonical Allele Identifier: CA400369983

Gene: MPO

Linked Data

• dbSNP Id: rs1359512785
• gnomAD v2: 17-56350868-A-T
• gnomAD v4: 17-58273507-A-T
• MyVariant Identifiers: chr17:g.56350868A>T (hg19) ; chr17:g.58273507A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273507A>T , CM000679.2:g.58273507A>T	GRCh38
NC_000017.10:g.56350868A>T , CM000679.1:g.56350868A>T	GRCh37
NC_000017.9:g.53705867A>T	NCBI36
NG_009629.1:g.12429T>A , LRG_84:g.12429T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.861T>A
ENST00000699291.1:c.653T>A	ENSP00000514272.1:n.653T>A
ENST00000699292.1:n.568T>A
ENST00000225275.4:c.1528T>A MANE Select	ENSP00000225275.3:p.Phe510Ile
ENST00000225275.3:c.1528T>A	ENSP00000225275.3:p.Phe510Ile
NM_000250.1:c.1528T>A , LRG_84t1:c.1528T>A	NP_000241.1:p.Phe510Ile
XM_011524821.1:c.1714T>A	XP_011523123.1:p.Phe572Ile
XM_011524822.1:c.1243T>A	XP_011523124.1:p.Phe415Ile
XM_011524823.1:c.*77T>A	XP_011523125.1:n.*77T>A
NM_000250.2:c.1528T>A MANE Select	NP_000241.1:p.Phe510Ile