Canonical Allele Identifier: CA8671072
Gene: MPO HGNC NCBI
COSMIC:
COSM4419686 (not active)
COSM4419687 (not active)
MyVariant.info:
GRCh38 chr17:g.58280457C>A
GRCh37 chr17:g.56357818C>A
Revel Score:
ENST00000340482 0.072
ENST00000225275 (MANE Select) 0.072
gnomAD v2:
17:56357818 C / A
gnomAD v3:
17:58280457 C / A
gnomAD v4:
chr17-58280457-C-A
Joint Max Group AF 0.1831259 (AFR)
Genomes Max Group AF 0.17910443 (AFR)
Exomes Max Group AF 0.18573359 (AFR)
ClinVar RCV:
RCV003981288
ClinVar Variation:
3055447
dbSNP:
7208693
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58280457C>A , CM000679.2:g.58280457C>A GRCh38
NC_000017.10:g.56357818C>A , CM000679.1:g.56357818C>A GRCh37
NC_000017.9:g.53712817C>A NCBI36
NG_009629.1:g.5479G>T , LRG_84:g.5479G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225275.4:c.157G>T MANE Select ENSP00000225275.3:p.Val53Phe
ENST00000225275.3:c.157G>T ENSP00000225275.3:p.Val53Phe
ENST00000580005.1:n.86G>T
NM_000250.1:c.157G>T , LRG_84t1:c.157G>T NP_000241.1:p.Val53Phe
XM_011524821.1:c.343G>T XP_011523123.1:p.Val115Phe
XM_011524822.1:c.-38+148G>T XP_011523124.1:n.-38+148G>T
XM_011524823.1:c.343G>T XP_011523125.1:p.Val115Phe
NM_000250.2:c.157G>T MANE Select NP_000241.1:p.Val53Phe
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