Canonical Allele Identifier: CA8670631
Gene: MPO HGNC NCBI

Linked Data

dbSNP Id: rs376191874
ExAC: 17:56350930 C / T
gnomAD v2: 17-56350930-C-T
gnomAD v3: 17-58273569-C-T
gnomAD v4: 17-58273569-C-T
COSMIC: COSM3388041 COSM3388042
MyVariant Identifiers: chr17:g.56350930C>T (hg19) chr17:g.58273569C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58273569C>T , CM000679.2:g.58273569C>T GRCh38
NC_000017.10:g.56350930C>T , CM000679.1:g.56350930C>T GRCh37
NC_000017.9:g.53705929C>T NCBI36
NG_009629.1:g.12367G>A , LRG_84:g.12367G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.799G>A
ENST00000699291.1:c.591G>A ENSP00000514272.1:n.591G>A
ENST00000699292.1:n.506G>A
ENST00000225275.4:c.1466G>A MANE Select ENSP00000225275.3:p.Arg489His
ENST00000225275.3:c.1466G>A ENSP00000225275.3:p.Arg489His
NM_000250.1:c.1466G>A , LRG_84t1:c.1466G>A NP_000241.1:p.Arg489His
XM_011524821.1:c.1652G>A XP_011523123.1:p.Arg551His
XM_011524822.1:c.1181G>A XP_011523124.1:p.Arg394His
XM_011524823.1:c.*15G>A XP_011523125.1:n.*15G>A
NM_000250.2:c.1466G>A MANE Select NP_000241.1:p.Arg489His
Search 100 bp 5'
Search 100 bp 3'