Canonical Allele Identifier: CA8670534

Gene: MPO

Linked Data

• dbSNP Id: rs529845670
• ExAC: 17:56350109 C / A
• gnomAD v2: 17-56350109-C-A
• gnomAD v3: 17-58272748-C-A
• gnomAD v4: 17-58272748-C-A
• MyVariant Identifiers: chr17:g.56350109C>A (hg19) ; chr17:g.58272748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58272748C>A , CM000679.2:g.58272748C>A	GRCh38
NC_000017.10:g.56350109C>A , CM000679.1:g.56350109C>A	GRCh37
NC_000017.9:g.53705108C>A	NCBI36
NG_009629.1:g.13188G>T , LRG_84:g.13188G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000578493.2:n.1125G>T
ENST00000699291.1:c.917G>T	ENSP00000514272.1:n.917G>T
ENST00000699292.1:n.1327G>T
ENST00000225275.4:c.1792G>T MANE Select	ENSP00000225275.3:p.Gly598Ter
ENST00000225275.3:c.1792G>T	ENSP00000225275.3:p.Gly598Ter
ENST00000577220.1:c.183+67G>T	ENSP00000464668.1:n.183+67G>T
NM_000250.1:c.1792G>T , LRG_84t1:c.1792G>T	NP_000241.1:p.Gly598Ter
XM_011524821.1:c.1978G>T	XP_011523123.1:p.Gly660Ter
XM_011524822.1:c.1507G>T	XP_011523124.1:p.Gly503Ter
NM_000250.2:c.1792G>T MANE Select	NP_000241.1:p.Gly598Ter