Canonical Allele Identifier: CA8670432
Gene: MPO HGNC NCBI

Linked Data

ClinVar Variation Id: 403102
ClinVar RCV Id: RCV000455269 RCV003972725
dbSNP Id: rs2071409
ExAC: 17:56348230 T / G
gnomAD v2: 17-56348230-T-G
gnomAD v3: 17-58270869-T-G
gnomAD v4: 17-58270869-T-G
MyVariant Identifiers: chr17:g.56348230T>G (hg19) chr17:g.58270869T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58270869T>G , CM000679.2:g.58270869T>G GRCh38
NC_000017.10:g.56348230T>G , CM000679.1:g.56348230T>G GRCh37
NC_000017.9:g.53703229T>G NCBI36
NG_009629.1:g.15067A>C , LRG_84:g.15067A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.1364-6A>C
ENST00000699291.1:c.1156-6A>C ENSP00000514272.1:n.1156-6A>C
ENST00000699292.1:n.1566-6A>C
ENST00000225275.4:c.2031-6A>C MANE Select ENSP00000225275.3:n.2031-6A>C
ENST00000225275.3:c.2031-6A>C ENSP00000225275.3:n.2031-6A>C
ENST00000577220.1:c.184-64A>C ENSP00000464668.1:n.184-64A>C
NM_000250.1:c.2031-6A>C , LRG_84t1:c.2031-6A>C NP_000241.1:n.2031-6A>C
XM_011524821.1:c.2217-6A>C XP_011523123.1:n.2217-6A>C
XM_011524822.1:c.1746-6A>C XP_011523124.1:n.1746-6A>C
NM_000250.2:c.2031-6A>C MANE Select NP_000241.1:n.2031-6A>C
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