Canonical Allele Identifier: CA8670639

Gene: MPO

Linked Data

• dbSNP Id: rs138170955
• ExAC: 17:56350962 C / T
• gnomAD v2: 17-56350962-C-T
• gnomAD v3: 17-58273601-C-T
• gnomAD v4: 17-58273601-C-T
• MyVariant Identifiers: chr17:g.56350962C>T (hg19) ; chr17:g.58273601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273601C>T , CM000679.2:g.58273601C>T	GRCh38
NC_000017.10:g.56350962C>T , CM000679.1:g.56350962C>T	GRCh37
NC_000017.9:g.53705961C>T	NCBI36
NG_009629.1:g.12335G>A , LRG_84:g.12335G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.767G>A
ENST00000699291.1:c.559G>A	ENSP00000514272.1:p.Val187Ile
ENST00000699292.1:n.474G>A
ENST00000225275.4:c.1434G>A MANE Select	ENSP00000225275.3:p.Thr478=
ENST00000225275.3:c.1434G>A	ENSP00000225275.3:p.Thr478=
NM_000250.1:c.1434G>A , LRG_84t1:c.1434G>A	NP_000241.1:p.Thr478=
XM_011524821.1:c.1620G>A	XP_011523123.1:p.Thr540=
XM_011524822.1:c.1149G>A	XP_011523124.1:p.Thr383=
XM_011524823.1:c.1459G>A	XP_011523125.1:p.Val487Ile
NM_000250.2:c.1434G>A MANE Select	NP_000241.1:p.Thr478=