Canonical Allele Identifier: CA292012351

Gene: MPO

Linked Data

• dbSNP Id: rs894784709
• gnomAD v3: 17-58273584-T-G
• gnomAD v4: 17-58273584-T-G
• MyVariant Identifiers: chr17:g.56350945T>G (hg19) ; chr17:g.58273584T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273584T>G , CM000679.2:g.58273584T>G	GRCh38
NC_000017.10:g.56350945T>G , CM000679.1:g.56350945T>G	GRCh37
NC_000017.9:g.53705944T>G	NCBI36
NG_009629.1:g.12352A>C , LRG_84:g.12352A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.784A>C
ENST00000699291.1:c.576A>C	ENSP00000514272.1:p.Ter192Cys
ENST00000699292.1:n.491A>C
ENST00000225275.4:c.1451A>C MANE Select	ENSP00000225275.3:p.Asp484Ala
ENST00000225275.3:c.1451A>C	ENSP00000225275.3:p.Asp484Ala
NM_000250.1:c.1451A>C , LRG_84t1:c.1451A>C	NP_000241.1:p.Asp484Ala
XM_011524821.1:c.1637A>C	XP_011523123.1:p.Asp546Ala
XM_011524822.1:c.1166A>C	XP_011523124.1:p.Asp389Ala
XM_011524823.1:c.1476A>C	XP_011523125.1:p.Ter492Cys
NM_000250.2:c.1451A>C MANE Select	NP_000241.1:p.Asp484Ala