Canonical Allele Identifier: CA116396
Gene: MPO HGNC NCBI

Linked Data

ClinVar Variation Id: 3635
ClinVar RCV Id: RCV000003820 RCV003894789
dbSNP Id: rs119469014
ExAC: 17:56350901 G / A
gnomAD v2: 17-56350901-G-A
gnomAD v3: 17-58273540-G-A
gnomAD v4: 17-58273540-G-A
COSMIC: COSM1215413
MyVariant Identifiers: chr17:g.56350901G>A (hg19) chr17:g.58273540G>A (hg38)
PubMed: PMID:17017121 PMID:17650507
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58273540G>A , CM000679.2:g.58273540G>A GRCh38
NC_000017.10:g.56350901G>A , CM000679.1:g.56350901G>A GRCh37
NC_000017.9:g.53705900G>A NCBI36
NG_009629.1:g.12396C>T , LRG_84:g.12396C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.828C>T
ENST00000699291.1:c.620C>T ENSP00000514272.1:n.620C>T
ENST00000699292.1:n.535C>T
ENST00000225275.4:c.1495C>T MANE Select ENSP00000225275.3:p.Arg499Cys
ENST00000225275.3:c.1495C>T ENSP00000225275.3:p.Arg499Cys
NM_000250.1:c.1495C>T , LRG_84t1:c.1495C>T NP_000241.1:p.Arg499Cys
XM_011524821.1:c.1681C>T XP_011523123.1:p.Arg561Cys
XM_011524822.1:c.1210C>T XP_011523124.1:p.Arg404Cys
XM_011524823.1:c.*44C>T XP_011523125.1:n.*44C>T
NM_000250.2:c.1495C>T MANE Select NP_000241.1:p.Arg499Cys
Search 100 bp 5'
Search 100 bp 3'