Canonical Allele Identifier: CA8670610

Gene: MPO

Linked Data

• dbSNP Id: rs748711952
• ExAC: 17:56350886 G / A
• gnomAD v2: 17-56350886-G-A
• gnomAD v4: 17-58273525-G-A
• MyVariant Identifiers: chr17:g.56350886G>A (hg19) ; chr17:g.58273525G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273525G>A , CM000679.2:g.58273525G>A	GRCh38
NC_000017.10:g.56350886G>A , CM000679.1:g.56350886G>A	GRCh37
NC_000017.9:g.53705885G>A	NCBI36
NG_009629.1:g.12411C>T , LRG_84:g.12411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.843C>T
ENST00000699291.1:c.635C>T	ENSP00000514272.1:n.635C>T
ENST00000699292.1:n.550C>T
ENST00000225275.4:c.1510C>T MANE Select	ENSP00000225275.3:p.Leu504Phe
ENST00000225275.3:c.1510C>T	ENSP00000225275.3:p.Leu504Phe
NM_000250.1:c.1510C>T , LRG_84t1:c.1510C>T	NP_000241.1:p.Leu504Phe
XM_011524821.1:c.1696C>T	XP_011523123.1:p.Leu566Phe
XM_011524822.1:c.1225C>T	XP_011523124.1:p.Leu409Phe
XM_011524823.1:c.*59C>T	XP_011523125.1:n.*59C>T
NM_000250.2:c.1510C>T MANE Select	NP_000241.1:p.Leu504Phe