Canonical Allele Identifier: CA400370315

Gene: MPO

Linked Data

• gnomAD v4: 17-58273590-T-C
• MyVariant Identifiers: chr17:g.56350951T>C (hg19) ; chr17:g.58273590T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273590T>C , CM000679.2:g.58273590T>C	GRCh38
NC_000017.10:g.56350951T>C , CM000679.1:g.56350951T>C	GRCh37
NC_000017.9:g.53705950T>C	NCBI36
NG_009629.1:g.12346A>G , LRG_84:g.12346A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.778A>G
ENST00000699291.1:c.570A>G	ENSP00000514272.1:p.Leu190=
ENST00000699292.1:n.485A>G
ENST00000225275.4:c.1445A>G MANE Select	ENSP00000225275.3:p.Tyr482Cys
ENST00000225275.3:c.1445A>G	ENSP00000225275.3:p.Tyr482Cys
NM_000250.1:c.1445A>G , LRG_84t1:c.1445A>G	NP_000241.1:p.Tyr482Cys
XM_011524821.1:c.1631A>G	XP_011523123.1:p.Tyr544Cys
XM_011524822.1:c.1160A>G	XP_011523124.1:p.Tyr387Cys
XM_011524823.1:c.1470A>G	XP_011523125.1:p.Leu490=
NM_000250.2:c.1445A>G MANE Select	NP_000241.1:p.Tyr482Cys