Canonical Allele Identifier: CA116381
Gene: MPO HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.58272835G>A
GRCh37 chr17:g.56350196G>A
Revel Score:
ENST00000340482 0.761
ENST00000225275 (MANE Select) 0.761
gnomAD v2:
17:56350196 G / A
gnomAD v3:
17:58272835 G / A
gnomAD v4:
chr17-58272835-G-A
Joint Max Group AF 0.00331705 (NFE)
Genomes Max Group AF 0.00271669 (NFE)
Exomes Max Group AF 0.00333484 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58272835G>A , CM000679.2:g.58272835G>A GRCh38
NC_000017.10:g.56350196G>A , CM000679.1:g.56350196G>A GRCh37
NC_000017.9:g.53705195G>A NCBI36
NG_009629.1:g.13101C>T , LRG_84:g.13101C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.1038C>T
ENST00000699291.1:c.830C>T ENSP00000514272.1:n.830C>T
ENST00000699292.1:n.1240C>T
ENST00000225275.4:c.1705C>T MANE Select ENSP00000225275.3:p.Arg569Trp
ENST00000225275.3:c.1705C>T ENSP00000225275.3:p.Arg569Trp
ENST00000577220.1:c.163C>T ENSP00000464668.1:p.Arg55Trp
NM_000250.1:c.1705C>T , LRG_84t1:c.1705C>T NP_000241.1:p.Arg569Trp
XM_011524821.1:c.1891C>T XP_011523123.1:p.Arg631Trp
XM_011524822.1:c.1420C>T XP_011523124.1:p.Arg474Trp
NM_000250.2:c.1705C>T MANE Select NP_000241.1:p.Arg569Trp
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