Canonical Allele Identifier: CA292012331

Gene: MPO

Linked Data

• dbSNP Id: rs577189469
• gnomAD v2: 17-56350920-G-C
• gnomAD v4: 17-58273559-G-C
• MyVariant Identifiers: chr17:g.56350920G>C (hg19) ; chr17:g.58273559G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58273559G>C , CM000679.2:g.58273559G>C	GRCh38
NC_000017.10:g.56350920G>C , CM000679.1:g.56350920G>C	GRCh37
NC_000017.9:g.53705919G>C	NCBI36
NG_009629.1:g.12377C>G , LRG_84:g.12377C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000578493.2:n.809C>G
ENST00000699291.1:c.601C>G	ENSP00000514272.1:n.601C>G
ENST00000699292.1:n.516C>G
ENST00000225275.4:c.1476C>G MANE Select	ENSP00000225275.3:p.Asn492Lys
ENST00000225275.3:c.1476C>G	ENSP00000225275.3:p.Asn492Lys
NM_000250.1:c.1476C>G , LRG_84t1:c.1476C>G	NP_000241.1:p.Asn492Lys
XM_011524821.1:c.1662C>G	XP_011523123.1:p.Asn554Lys
XM_011524822.1:c.1191C>G	XP_011523124.1:p.Asn397Lys
XM_011524823.1:c.*25C>G	XP_011523125.1:n.*25C>G
NM_000250.2:c.1476C>G MANE Select	NP_000241.1:p.Asn492Lys