Canonical Allele Identifier: CA501023560

Gene: MPO

Linked Data

• dbSNP Id: rs1970397440
• gnomAD v4: 17-58273640-C-A
• MyVariant Identifiers: chr17:g.56351001C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273640C>A , CM000679.2:g.58273640C>A	GRCh38
NC_000017.10:g.56351001C>A , CM000679.1:g.56351001C>A	GRCh37
NC_000017.9:g.53706000C>A	NCBI36
NG_009629.1:g.12296G>T , LRG_84:g.12296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.728G>T
ENST00000699291.1:c.520G>T	ENSP00000514272.1:p.Gly174Cys
ENST00000699292.1:n.435G>T
ENST00000225275.4:c.1395G>T MANE Select	ENSP00000225275.3:p.Leu465=
ENST00000225275.3:c.1395G>T	ENSP00000225275.3:p.Leu465=
NM_000250.1:c.1395G>T , LRG_84t1:c.1395G>T	NP_000241.1:p.Leu465=
XM_011524821.1:c.1581G>T	XP_011523123.1:p.Leu527=
XM_011524822.1:c.1110G>T	XP_011523124.1:p.Leu370=
XM_011524823.1:c.1420G>T	XP_011523125.1:p.Gly474Cys
NM_000250.2:c.1395G>T MANE Select	NP_000241.1:p.Leu465=