Canonical Allele Identifier: CA501023528

Gene: MPO

Linked Data

• dbSNP Id: rs1330236674
• gnomAD v2: 17-56350992-C-T
• gnomAD v4: 17-58273631-C-T
• MyVariant Identifiers: chr17:g.56350992C>T (hg19) ; chr17:g.58273631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273631C>T , CM000679.2:g.58273631C>T	GRCh38
NC_000017.10:g.56350992C>T , CM000679.1:g.56350992C>T	GRCh37
NC_000017.9:g.53705991C>T	NCBI36
NG_009629.1:g.12305G>A , LRG_84:g.12305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.737G>A
ENST00000699291.1:c.529G>A	ENSP00000514272.1:p.Ala177Thr
ENST00000699292.1:n.444G>A
ENST00000225275.4:c.1404G>A MANE Select	ENSP00000225275.3:p.Gly468=
ENST00000225275.3:c.1404G>A	ENSP00000225275.3:p.Gly468=
NM_000250.1:c.1404G>A , LRG_84t1:c.1404G>A	NP_000241.1:p.Gly468=
XM_011524821.1:c.1590G>A	XP_011523123.1:p.Gly530=
XM_011524822.1:c.1119G>A	XP_011523124.1:p.Gly373=
XM_011524823.1:c.1429G>A	XP_011523125.1:p.Ala477Thr
NM_000250.2:c.1404G>A MANE Select	NP_000241.1:p.Gly468=