Canonical Allele Identifier: CA8670620

Gene: MPO

Linked Data

• dbSNP Id: rs750195147
• ExAC: 17:56350913 T / G
• gnomAD v2: 17-56350913-T-G
• gnomAD v4: 17-58273552-T-G
• MyVariant Identifiers: chr17:g.56350913T>G (hg19) ; chr17:g.58273552T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273552T>G , CM000679.2:g.58273552T>G	GRCh38
NC_000017.10:g.56350913T>G , CM000679.1:g.56350913T>G	GRCh37
NC_000017.9:g.53705912T>G	NCBI36
NG_009629.1:g.12384A>C , LRG_84:g.12384A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.816A>C
ENST00000699291.1:c.608A>C	ENSP00000514272.1:n.608A>C
ENST00000699292.1:n.523A>C
ENST00000225275.4:c.1483A>C MANE Select	ENSP00000225275.3:p.Thr495Pro
ENST00000225275.3:c.1483A>C	ENSP00000225275.3:p.Thr495Pro
NM_000250.1:c.1483A>C , LRG_84t1:c.1483A>C	NP_000241.1:p.Thr495Pro
XM_011524821.1:c.1669A>C	XP_011523123.1:p.Thr557Pro
XM_011524822.1:c.1198A>C	XP_011523124.1:p.Thr400Pro
XM_011524823.1:c.*32A>C	XP_011523125.1:n.*32A>C
NM_000250.2:c.1483A>C MANE Select	NP_000241.1:p.Thr495Pro