Canonical Allele Identifier: CA400369584

Gene: MPO

Linked Data

• ClinVar Variation Id: 452406
• ClinVar RCV Id: RCV000519053
• dbSNP Id: rs1555607599
• gnomAD v4: 17-58273412-A-G
• MyVariant Identifiers: chr17:g.56350773A>G (hg19) ; chr17:g.58273412A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273412A>G , CM000679.2:g.58273412A>G	GRCh38
NC_000017.10:g.56350773A>G , CM000679.1:g.56350773A>G	GRCh37
NC_000017.9:g.53705772A>G	NCBI36
NG_009629.1:g.12524T>C , LRG_84:g.12524T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000578493.2:n.954+2T>C
ENST00000699291.1:c.746+2T>C	ENSP00000514272.1:n.746+2T>C
ENST00000699292.1:n.663T>C
ENST00000225275.4:c.1621+2T>C MANE Select	ENSP00000225275.3:n.1621+2T>C
ENST00000225275.3:c.1621+2T>C	ENSP00000225275.3:n.1621+2T>C
ENST00000577220.1:c.79+2T>C	ENSP00000464668.1:n.79+2T>C
NM_000250.1:c.1621+2T>C , LRG_84t1:c.1621+2T>C	NP_000241.1:n.1621+2T>C
XM_011524821.1:c.1807+2T>C	XP_011523123.1:n.1807+2T>C
XM_011524822.1:c.1336+2T>C	XP_011523124.1:n.1336+2T>C
NM_000250.2:c.1621+2T>C MANE Select	NP_000241.1:n.1621+2T>C