Canonical Allele Identifier: CA116393
Gene: MPO HGNC NCBI

Linked Data

ClinVar Variation Id: 3634
ClinVar RCV Id: RCV000003819
dbSNP Id: rs119469013
gnomAD v2: 17-56350895-C-T
gnomAD v3: 17-58273534-C-T
gnomAD v4: 17-58273534-C-T
MyVariant Identifiers: chr17:g.56350895C>T (hg19) chr17:g.58273534C>T (hg38)
PubMed: PMID:14980716 PMID:17650507
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58273534C>T , CM000679.2:g.58273534C>T GRCh38
NC_000017.10:g.56350895C>T , CM000679.1:g.56350895C>T GRCh37
NC_000017.9:g.53705894C>T NCBI36
NG_009629.1:g.12402G>A , LRG_84:g.12402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.834G>A
ENST00000699291.1:c.626G>A ENSP00000514272.1:n.626G>A
ENST00000699292.1:n.541G>A
ENST00000225275.4:c.1501G>A MANE Select ENSP00000225275.3:p.Gly501Ser
ENST00000225275.3:c.1501G>A ENSP00000225275.3:p.Gly501Ser
NM_000250.1:c.1501G>A , LRG_84t1:c.1501G>A NP_000241.1:p.Gly501Ser
XM_011524821.1:c.1687G>A XP_011523123.1:p.Gly563Ser
XM_011524822.1:c.1216G>A XP_011523124.1:p.Gly406Ser
XM_011524823.1:c.*50G>A XP_011523125.1:n.*50G>A
NM_000250.2:c.1501G>A MANE Select NP_000241.1:p.Gly501Ser
Search 100 bp 5'
Search 100 bp 3'