Canonical Allele Identifier: CA8670634

Gene: MPO

Linked Data

• dbSNP Id: rs761434457
• ExAC: 17:56350940 C / T
• gnomAD v2: 17-56350940-C-T
• gnomAD v3: 17-58273579-C-T
• gnomAD v4: 17-58273579-C-T
• MyVariant Identifiers: chr17:g.56350940C>T (hg19) ; chr17:g.58273579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273579C>T , CM000679.2:g.58273579C>T	GRCh38
NC_000017.10:g.56350940C>T , CM000679.1:g.56350940C>T	GRCh37
NC_000017.9:g.53705939C>T	NCBI36
NG_009629.1:g.12357G>A , LRG_84:g.12357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.789G>A
ENST00000699291.1:c.581G>A	ENSP00000514272.1:n.581G>A
ENST00000699292.1:n.496G>A
ENST00000225275.4:c.1456G>A MANE Select	ENSP00000225275.3:p.Val486Met
ENST00000225275.3:c.1456G>A	ENSP00000225275.3:p.Val486Met
NM_000250.1:c.1456G>A , LRG_84t1:c.1456G>A	NP_000241.1:p.Val486Met
XM_011524821.1:c.1642G>A	XP_011523123.1:p.Val548Met
XM_011524822.1:c.1171G>A	XP_011523124.1:p.Val391Met
XM_011524823.1:c.*5G>A	XP_011523125.1:n.*5G>A
NM_000250.2:c.1456G>A MANE Select	NP_000241.1:p.Val486Met