Canonical Allele Identifier: CA212810
Gene: MPO HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.58270865T>G
GRCh37 chr17:g.56348226T>G
gnomAD v2:
17:56348226 T / G
gnomAD v3:
17:58270865 T / G
gnomAD v4:
chr17-58270865-T-G
Joint Max Group AF 0.00649433 (NFE)
Genomes Max Group AF 0.00650973 (NFE)
Exomes Max Group AF 0.0064654 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58270865T>G , CM000679.2:g.58270865T>G GRCh38
NC_000017.10:g.56348226T>G , CM000679.1:g.56348226T>G GRCh37
NC_000017.9:g.53703225T>G NCBI36
NG_009629.1:g.15071A>C , LRG_84:g.15071A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.1364-2A>C
ENST00000699291.1:c.1156-2A>C ENSP00000514272.1:n.1156-2A>C
ENST00000699292.1:n.1566-2A>C
ENST00000225275.4:c.2031-2A>C MANE Select ENSP00000225275.3:n.2031-2A>C
ENST00000225275.3:c.2031-2A>C ENSP00000225275.3:n.2031-2A>C
ENST00000577220.1:c.184-60A>C ENSP00000464668.1:n.184-60A>C
NM_000250.1:c.2031-2A>C , LRG_84t1:c.2031-2A>C NP_000241.1:n.2031-2A>C
XM_011524821.1:c.2217-2A>C XP_011523123.1:n.2217-2A>C
XM_011524822.1:c.1746-2A>C XP_011523124.1:n.1746-2A>C
NM_000250.2:c.2031-2A>C MANE Select NP_000241.1:n.2031-2A>C
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