Canonical Allele Identifier: CA8670626
Gene: MPO HGNC NCBI

Linked Data

ClinVar Variation Id: 2278742
ClinVar RCV Id: RCV004133367
dbSNP Id: rs756572859
ExAC: 17:56350925 C / T
gnomAD v2: 17-56350925-C-T
gnomAD v3: 17-58273564-C-T
gnomAD v4: 17-58273564-C-T
MyVariant Identifiers: chr17:g.56350925C>T (hg19) chr17:g.58273564C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58273564C>T , CM000679.2:g.58273564C>T GRCh38
NC_000017.10:g.56350925C>T , CM000679.1:g.56350925C>T GRCh37
NC_000017.9:g.53705924C>T NCBI36
NG_009629.1:g.12372G>A , LRG_84:g.12372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000578493.2:n.804G>A
ENST00000699291.1:c.596G>A ENSP00000514272.1:n.596G>A
ENST00000699292.1:n.511G>A
ENST00000225275.4:c.1471G>A MANE Select ENSP00000225275.3:p.Ala491Thr
ENST00000225275.3:c.1471G>A ENSP00000225275.3:p.Ala491Thr
NM_000250.1:c.1471G>A , LRG_84t1:c.1471G>A NP_000241.1:p.Ala491Thr
XM_011524821.1:c.1657G>A XP_011523123.1:p.Ala553Thr
XM_011524822.1:c.1186G>A XP_011523124.1:p.Ala396Thr
XM_011524823.1:c.*20G>A XP_011523125.1:n.*20G>A
NM_000250.2:c.1471G>A MANE Select NP_000241.1:p.Ala491Thr
Search 100 bp 5'
Search 100 bp 3'