Canonical Allele Identifier: CA8670630

Gene: MPO

Linked Data

• dbSNP Id: rs774997994
• ExAC: 17:56350929 G / T
• gnomAD v2: 17-56350929-G-T
• gnomAD v4: 17-58273568-G-T
• MyVariant Identifiers: chr17:g.56350929G>T (hg19) ; chr17:g.58273568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273568G>T , CM000679.2:g.58273568G>T	GRCh38
NC_000017.10:g.56350929G>T , CM000679.1:g.56350929G>T	GRCh37
NC_000017.9:g.53705928G>T	NCBI36
NG_009629.1:g.12368C>A , LRG_84:g.12368C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.800C>A
ENST00000699291.1:c.592C>A	ENSP00000514272.1:n.592C>A
ENST00000699292.1:n.507C>A
ENST00000225275.4:c.1467C>A MANE Select	ENSP00000225275.3:p.Arg489=
ENST00000225275.3:c.1467C>A	ENSP00000225275.3:p.Arg489=
NM_000250.1:c.1467C>A , LRG_84t1:c.1467C>A	NP_000241.1:p.Arg489=
XM_011524821.1:c.1653C>A	XP_011523123.1:p.Arg551=
XM_011524822.1:c.1182C>A	XP_011523124.1:p.Arg394=
XM_011524823.1:c.*16C>A	XP_011523125.1:n.*16C>A
NM_000250.2:c.1467C>A MANE Select	NP_000241.1:p.Arg489=