Canonical Allele Identifier: CA8670536

Gene: MPO

Linked Data

• dbSNP Id: rs138764204
• ExAC: 17:56350119 G / A
• gnomAD v2: 17-56350119-G-A
• gnomAD v3: 17-58272758-G-A
• gnomAD v4: 17-58272758-G-A
• MyVariant Identifiers: chr17:g.56350119G>A (hg19) ; chr17:g.58272758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58272758G>A , CM000679.2:g.58272758G>A	GRCh38
NC_000017.10:g.56350119G>A , CM000679.1:g.56350119G>A	GRCh37
NC_000017.9:g.53705118G>A	NCBI36
NG_009629.1:g.13178C>T , LRG_84:g.13178C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000578493.2:n.1115C>T
ENST00000699291.1:c.907C>T	ENSP00000514272.1:n.907C>T
ENST00000699292.1:n.1317C>T
ENST00000225275.4:c.1782C>T MANE Select	ENSP00000225275.3:p.His594=
ENST00000225275.3:c.1782C>T	ENSP00000225275.3:p.His594=
ENST00000577220.1:c.183+57C>T	ENSP00000464668.1:n.183+57C>T
NM_000250.1:c.1782C>T , LRG_84t1:c.1782C>T	NP_000241.1:p.His594=
XM_011524821.1:c.1968C>T	XP_011523123.1:p.His656=
XM_011524822.1:c.1497C>T	XP_011523124.1:p.His499=
NM_000250.2:c.1782C>T MANE Select	NP_000241.1:p.His594=