Canonical Allele Identifier: CA400369628

Gene: MPO

Linked Data

• dbSNP Id: rs757163546
• gnomAD v4: 17-58273423-C-A
• MyVariant Identifiers: chr17:g.56350784C>A (hg19) ; chr17:g.58273423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273423C>A , CM000679.2:g.58273423C>A	GRCh38
NC_000017.10:g.56350784C>A , CM000679.1:g.56350784C>A	GRCh37
NC_000017.9:g.53705783C>A	NCBI36
NG_009629.1:g.12513G>T , LRG_84:g.12513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.945G>T
ENST00000699291.1:c.737G>T	ENSP00000514272.1:n.737G>T
ENST00000699292.1:n.652G>T
ENST00000225275.4:c.1612G>T MANE Select	ENSP00000225275.3:p.Val538Leu
ENST00000225275.3:c.1612G>T	ENSP00000225275.3:p.Val538Leu
ENST00000577220.1:c.70G>T	ENSP00000464668.1:p.Val24Leu
NM_000250.1:c.1612G>T , LRG_84t1:c.1612G>T	NP_000241.1:p.Val538Leu
XM_011524821.1:c.1798G>T	XP_011523123.1:p.Val600Leu
XM_011524822.1:c.1327G>T	XP_011523124.1:p.Val443Leu
NM_000250.2:c.1612G>T MANE Select	NP_000241.1:p.Val538Leu