Canonical Allele Identifier: CA400369989

Gene: MPO

Linked Data

• dbSNP Id: rs1282328043
• gnomAD v2: 17-56350870-A-C
• gnomAD v4: 17-58273509-A-C
• MyVariant Identifiers: chr17:g.56350870A>C (hg19) ; chr17:g.58273509A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273509A>C , CM000679.2:g.58273509A>C	GRCh38
NC_000017.10:g.56350870A>C , CM000679.1:g.56350870A>C	GRCh37
NC_000017.9:g.53705869A>C	NCBI36
NG_009629.1:g.12427T>G , LRG_84:g.12427T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.859T>G
ENST00000699291.1:c.651T>G	ENSP00000514272.1:n.651T>G
ENST00000699292.1:n.566T>G
ENST00000225275.4:c.1526T>G MANE Select	ENSP00000225275.3:p.Met509Arg
ENST00000225275.3:c.1526T>G	ENSP00000225275.3:p.Met509Arg
NM_000250.1:c.1526T>G , LRG_84t1:c.1526T>G	NP_000241.1:p.Met509Arg
XM_011524821.1:c.1712T>G	XP_011523123.1:p.Met571Arg
XM_011524822.1:c.1241T>G	XP_011523124.1:p.Met414Arg
XM_011524823.1:c.*75T>G	XP_011523125.1:n.*75T>G
NM_000250.2:c.1526T>G MANE Select	NP_000241.1:p.Met509Arg