Canonical Allele Identifier: CA8670609

Gene: MPO

Linked Data

• dbSNP Id: rs748711952
• ExAC: 17:56350886 G / C
• gnomAD v2: 17-56350886-G-C
• gnomAD v3: 17-58273525-G-C
• gnomAD v4: 17-58273525-G-C
• MyVariant Identifiers: chr17:g.56350886G>C (hg19) ; chr17:g.58273525G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273525G>C , CM000679.2:g.58273525G>C	GRCh38
NC_000017.10:g.56350886G>C , CM000679.1:g.56350886G>C	GRCh37
NC_000017.9:g.53705885G>C	NCBI36
NG_009629.1:g.12411C>G , LRG_84:g.12411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.843C>G
ENST00000699291.1:c.635C>G	ENSP00000514272.1:n.635C>G
ENST00000699292.1:n.550C>G
ENST00000225275.4:c.1510C>G MANE Select	ENSP00000225275.3:p.Leu504Val
ENST00000225275.3:c.1510C>G	ENSP00000225275.3:p.Leu504Val
NM_000250.1:c.1510C>G , LRG_84t1:c.1510C>G	NP_000241.1:p.Leu504Val
XM_011524821.1:c.1696C>G	XP_011523123.1:p.Leu566Val
XM_011524822.1:c.1225C>G	XP_011523124.1:p.Leu409Val
XM_011524823.1:c.*59C>G	XP_011523125.1:n.*59C>G
NM_000250.2:c.1510C>G MANE Select	NP_000241.1:p.Leu504Val