Canonical Allele Identifier: CA116383

Gene: MPO

Linked Data

• ClinVar Variation Id: 3627
• ClinVar RCV Id: RCV000003811 ; RCV001701559
• dbSNP Id: rs78950939
• ExAC: 17:56356914 T / C
• gnomAD v2: 17-56356914-T-C
• gnomAD v3: 17-58279553-T-C
• gnomAD v4: 17-58279553-T-C
• MyVariant Identifiers: chr17:g.56356914T>C (hg19) ; chr17:g.58279553T>C (hg38)
• PubMed: PMID:9637725

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58279553T>C , CM000679.2:g.58279553T>C	GRCh38
NC_000017.10:g.56356914T>C , CM000679.1:g.56356914T>C	GRCh37
NC_000017.9:g.53711913T>C	NCBI36
NG_009629.1:g.6383A>G , LRG_84:g.6383A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225275.4:c.518A>G MANE Select	ENSP00000225275.3:p.Tyr173Cys
ENST00000225275.3:c.518A>G	ENSP00000225275.3:p.Tyr173Cys
NM_000250.1:c.518A>G , LRG_84t1:c.518A>G	NP_000241.1:p.Tyr173Cys
XM_011524821.1:c.704A>G	XP_011523123.1:p.Tyr235Cys
XM_011524822.1:c.233A>G	XP_011523124.1:p.Tyr78Cys
XM_011524823.1:c.704A>G	XP_011523125.1:p.Tyr235Cys
NM_000250.2:c.518A>G MANE Select	NP_000241.1:p.Tyr173Cys