Canonical Allele Identifier: CA8670638

Gene: MPO

Linked Data

• dbSNP Id: rs377457852
• ExAC: 17:56350958 G / A
• gnomAD v2: 17-56350958-G-A
• gnomAD v3: 17-58273597-G-A
• gnomAD v4: 17-58273597-G-A
• MyVariant Identifiers: chr17:g.56350958G>A (hg19) ; chr17:g.58273597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273597G>A , CM000679.2:g.58273597G>A	GRCh38
NC_000017.10:g.56350958G>A , CM000679.1:g.56350958G>A	GRCh37
NC_000017.9:g.53705957G>A	NCBI36
NG_009629.1:g.12339C>T , LRG_84:g.12339C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.771C>T
ENST00000699291.1:c.563C>T	ENSP00000514272.1:p.Pro188Leu
ENST00000699292.1:n.478C>T
ENST00000225275.4:c.1438C>T MANE Select	ENSP00000225275.3:p.Arg480Cys
ENST00000225275.3:c.1438C>T	ENSP00000225275.3:p.Arg480Cys
NM_000250.1:c.1438C>T , LRG_84t1:c.1438C>T	NP_000241.1:p.Arg480Cys
XM_011524821.1:c.1624C>T	XP_011523123.1:p.Arg542Cys
XM_011524822.1:c.1153C>T	XP_011523124.1:p.Arg385Cys
XM_011524823.1:c.1463C>T	XP_011523125.1:p.Pro488Leu
NM_000250.2:c.1438C>T MANE Select	NP_000241.1:p.Arg480Cys