Canonical Allele Identifier: CA292012137

Gene: MPO

Linked Data

• dbSNP Id: rs373958427
• gnomAD v2: 17-56350751-G-A
• gnomAD v3: 17-58273390-G-A
• gnomAD v4: 17-58273390-G-A
• MyVariant Identifiers: chr17:g.56350751G>A (hg19) ; chr17:g.58273390G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273390G>A , CM000679.2:g.58273390G>A	GRCh38
NC_000017.10:g.56350751G>A , CM000679.1:g.56350751G>A	GRCh37
NC_000017.9:g.53705750G>A	NCBI36
NG_009629.1:g.12546C>T , LRG_84:g.12546C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000578493.2:n.954+24C>T
ENST00000699291.1:c.746+24C>T	ENSP00000514272.1:n.746+24C>T
ENST00000699292.1:n.685C>T
ENST00000225275.4:c.1621+24C>T MANE Select	ENSP00000225275.3:n.1621+24C>T
ENST00000225275.3:c.1621+24C>T	ENSP00000225275.3:n.1621+24C>T
ENST00000577220.1:c.79+24C>T	ENSP00000464668.1:n.79+24C>T
NM_000250.1:c.1621+24C>T , LRG_84t1:c.1621+24C>T	NP_000241.1:n.1621+24C>T
XM_011524821.1:c.1807+24C>T	XP_011523123.1:n.1807+24C>T
XM_011524822.1:c.1336+24C>T	XP_011523124.1:n.1336+24C>T
NM_000250.2:c.1621+24C>T MANE Select	NP_000241.1:n.1621+24C>T