Canonical Allele Identifier: CA292012340

Gene: MPO

Linked Data

• dbSNP Id: rs376191874
• gnomAD v2: 17-56350930-C-A
• gnomAD v4: 17-58273569-C-A
• MyVariant Identifiers: chr17:g.56350930C>A (hg19) ; chr17:g.58273569C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273569C>A , CM000679.2:g.58273569C>A	GRCh38
NC_000017.10:g.56350930C>A , CM000679.1:g.56350930C>A	GRCh37
NC_000017.9:g.53705929C>A	NCBI36
NG_009629.1:g.12367G>T , LRG_84:g.12367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.799G>T
ENST00000699291.1:c.591G>T	ENSP00000514272.1:n.591G>T
ENST00000699292.1:n.506G>T
ENST00000225275.4:c.1466G>T MANE Select	ENSP00000225275.3:p.Arg489Leu
ENST00000225275.3:c.1466G>T	ENSP00000225275.3:p.Arg489Leu
NM_000250.1:c.1466G>T , LRG_84t1:c.1466G>T	NP_000241.1:p.Arg489Leu
XM_011524821.1:c.1652G>T	XP_011523123.1:p.Arg551Leu
XM_011524822.1:c.1181G>T	XP_011523124.1:p.Arg394Leu
XM_011524823.1:c.*15G>T	XP_011523125.1:n.*15G>T
NM_000250.2:c.1466G>T MANE Select	NP_000241.1:p.Arg489Leu