Canonical Allele Identifier: CA8670648

Gene: MPO

Linked Data

• dbSNP Id: rs746253789
• ExAC: 17:56351006 G / A
• gnomAD v2: 17-56351006-G-A
• gnomAD v4: 17-58273645-G-A
• MyVariant Identifiers: chr17:g.56351006G>A (hg19) ; chr17:g.58273645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273645G>A , CM000679.2:g.58273645G>A	GRCh38
NC_000017.10:g.56351006G>A , CM000679.1:g.56351006G>A	GRCh37
NC_000017.9:g.53706005G>A	NCBI36
NG_009629.1:g.12291C>T , LRG_84:g.12291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.723C>T
ENST00000699291.1:c.515C>T	ENSP00000514272.1:p.Ala172Val
ENST00000699292.1:n.430C>T
ENST00000225275.4:c.1390C>T MANE Select	ENSP00000225275.3:p.Pro464Ser
ENST00000225275.3:c.1390C>T	ENSP00000225275.3:p.Pro464Ser
NM_000250.1:c.1390C>T , LRG_84t1:c.1390C>T	NP_000241.1:p.Pro464Ser
XM_011524821.1:c.1576C>T	XP_011523123.1:p.Pro526Ser
XM_011524822.1:c.1105C>T	XP_011523124.1:p.Pro369Ser
XM_011524823.1:c.1415C>T	XP_011523125.1:p.Ala472Val
NM_000250.2:c.1390C>T MANE Select	NP_000241.1:p.Pro464Ser