Canonical Allele Identifier: CA212810

Gene: MPO

Linked Data

• ClinVar Variation Id: 3632
• ClinVar RCV Id: RCV000003816 ; RCV000265536 ; RCV002482823 ; RCV003398437
• dbSNP Id: rs35897051
• ExAC: 17:56348226 T / G
• gnomAD v2: 17-56348226-T-G
• gnomAD v3: 17-58270865-T-G
• gnomAD v4: 17-58270865-T-G
• MyVariant Identifiers: chr17:g.56348226T>G (hg19) ; chr17:g.58270865T>G (hg38)
• PubMed: PMID:6260268 ; PMID:9766845 ; PMID:15108282

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58270865T>G , CM000679.2:g.58270865T>G	GRCh38
NC_000017.10:g.56348226T>G , CM000679.1:g.56348226T>G	GRCh37
NC_000017.9:g.53703225T>G	NCBI36
NG_009629.1:g.15071A>C , LRG_84:g.15071A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.1364-2A>C
ENST00000699291.1:c.1156-2A>C	ENSP00000514272.1:n.1156-2A>C
ENST00000699292.1:n.1566-2A>C
ENST00000225275.4:c.2031-2A>C MANE Select	ENSP00000225275.3:n.2031-2A>C
ENST00000225275.3:c.2031-2A>C	ENSP00000225275.3:n.2031-2A>C
ENST00000577220.1:c.184-60A>C	ENSP00000464668.1:n.184-60A>C
NM_000250.1:c.2031-2A>C , LRG_84t1:c.2031-2A>C	NP_000241.1:n.2031-2A>C
XM_011524821.1:c.2217-2A>C	XP_011523123.1:n.2217-2A>C
XM_011524822.1:c.1746-2A>C	XP_011523124.1:n.1746-2A>C
NM_000250.2:c.2031-2A>C MANE Select	NP_000241.1:n.2031-2A>C