Canonical Allele Identifier: CA8670596

Gene: MPO

Linked Data

• dbSNP Id: rs142034772
• ExAC: 17:56350829 G / C
• gnomAD v2: 17-56350829-G-C
• gnomAD v4: 17-58273468-G-C
• MyVariant Identifiers: chr17:g.56350829G>C (hg19) ; chr17:g.58273468G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273468G>C , CM000679.2:g.58273468G>C	GRCh38
NC_000017.10:g.56350829G>C , CM000679.1:g.56350829G>C	GRCh37
NC_000017.9:g.53705828G>C	NCBI36
NG_009629.1:g.12468C>G , LRG_84:g.12468C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.900C>G
ENST00000699291.1:c.692C>G	ENSP00000514272.1:n.692C>G
ENST00000699292.1:n.607C>G
ENST00000225275.4:c.1567C>G MANE Select	ENSP00000225275.3:p.Pro523Ala
ENST00000225275.3:c.1567C>G	ENSP00000225275.3:p.Pro523Ala
ENST00000577220.1:c.25C>G	ENSP00000464668.1:p.Pro9Ala
NM_000250.1:c.1567C>G , LRG_84t1:c.1567C>G	NP_000241.1:p.Pro523Ala
XM_011524821.1:c.1753C>G	XP_011523123.1:p.Pro585Ala
XM_011524822.1:c.1282C>G	XP_011523124.1:p.Pro428Ala
XM_011524823.1:c.*116C>G	XP_011523125.1:n.*116C>G
NM_000250.2:c.1567C>G MANE Select	NP_000241.1:p.Pro523Ala