Canonical Allele Identifier: CA8670535
Gene: MPO HGNC NCBI

Linked Data

ClinVar Variation Id: 995959
ClinVar RCV Id: RCV001290209
dbSNP Id: rs774984207
ExAC: 17:56350118 C / T
gnomAD v2: 17-56350118-C-T
gnomAD v3: 17-58272757-C-T
gnomAD v4: 17-58272757-C-T
COSMIC: COSM1215417
MyVariant Identifiers: chr17:g.56350118C>T (hg19) chr17:g.58272757C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58272757C>T , CM000679.2:g.58272757C>T GRCh38
NC_000017.10:g.56350118C>T , CM000679.1:g.56350118C>T GRCh37
NC_000017.9:g.53705117C>T NCBI36
NG_009629.1:g.13179G>A , LRG_84:g.13179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.1116G>A
ENST00000699291.1:c.908G>A ENSP00000514272.1:n.908G>A
ENST00000699292.1:n.1318G>A
ENST00000225275.4:c.1783G>A MANE Select ENSP00000225275.3:p.Gly595Ser
ENST00000225275.3:c.1783G>A ENSP00000225275.3:p.Gly595Ser
ENST00000577220.1:c.183+58G>A ENSP00000464668.1:n.183+58G>A
NM_000250.1:c.1783G>A , LRG_84t1:c.1783G>A NP_000241.1:p.Gly595Ser
XM_011524821.1:c.1969G>A XP_011523123.1:p.Gly657Ser
XM_011524822.1:c.1498G>A XP_011523124.1:p.Gly500Ser
NM_000250.2:c.1783G>A MANE Select NP_000241.1:p.Gly595Ser
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