Canonical Allele Identifier: CA400370138

Gene: MPO

Linked Data

• dbSNP Id: rs771572116
• gnomAD v2: 17-56350900-C-A
• MyVariant Identifiers: chr17:g.56350900C>A (hg19) ; chr17:g.58273539C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273539C>A , CM000679.2:g.58273539C>A	GRCh38
NC_000017.10:g.56350900C>A , CM000679.1:g.56350900C>A	GRCh37
NC_000017.9:g.53705899C>A	NCBI36
NG_009629.1:g.12397G>T , LRG_84:g.12397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.829G>T
ENST00000699291.1:c.621G>T	ENSP00000514272.1:n.621G>T
ENST00000699292.1:n.536G>T
ENST00000225275.4:c.1496G>T MANE Select	ENSP00000225275.3:p.Arg499Leu
ENST00000225275.3:c.1496G>T	ENSP00000225275.3:p.Arg499Leu
NM_000250.1:c.1496G>T , LRG_84t1:c.1496G>T	NP_000241.1:p.Arg499Leu
XM_011524821.1:c.1682G>T	XP_011523123.1:p.Arg561Leu
XM_011524822.1:c.1211G>T	XP_011523124.1:p.Arg404Leu
XM_011524823.1:c.*45G>T	XP_011523125.1:n.*45G>T
NM_000250.2:c.1496G>T MANE Select	NP_000241.1:p.Arg499Leu