Canonical Allele Identifier: CA501022682

Gene: MPO

Linked Data

• dbSNP Id: rs1970394247
• gnomAD v4: 17-58273526-G-T
• MyVariant Identifiers: chr17:g.56350887G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273526G>T , CM000679.2:g.58273526G>T	GRCh38
NC_000017.10:g.56350887G>T , CM000679.1:g.56350887G>T	GRCh37
NC_000017.9:g.53705886G>T	NCBI36
NG_009629.1:g.12410C>A , LRG_84:g.12410C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.842C>A
ENST00000699291.1:c.634C>A	ENSP00000514272.1:n.634C>A
ENST00000699292.1:n.549C>A
ENST00000225275.4:c.1509C>A MANE Select	ENSP00000225275.3:p.Thr503=
ENST00000225275.3:c.1509C>A	ENSP00000225275.3:p.Thr503=
NM_000250.1:c.1509C>A , LRG_84t1:c.1509C>A	NP_000241.1:p.Thr503=
XM_011524821.1:c.1695C>A	XP_011523123.1:p.Thr565=
XM_011524822.1:c.1224C>A	XP_011523124.1:p.Thr408=
XM_011524823.1:c.*58C>A	XP_011523125.1:n.*58C>A
NM_000250.2:c.1509C>A MANE Select	NP_000241.1:p.Thr503=