Canonical Allele Identifier: CA400368968

Gene: MPO

Linked Data

• dbSNP Id: rs1257933668
• gnomAD v2: 17-56350112-G-A
• gnomAD v4: 17-58272751-G-A
• COSMIC: COSM4796355 ; COSM4796356
• MyVariant Identifiers: chr17:g.56350112G>A (hg19) ; chr17:g.58272751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58272751G>A , CM000679.2:g.58272751G>A	GRCh38
NC_000017.10:g.56350112G>A , CM000679.1:g.56350112G>A	GRCh37
NC_000017.9:g.53705111G>A	NCBI36
NG_009629.1:g.13185C>T , LRG_84:g.13185C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000578493.2:n.1122C>T
ENST00000699291.1:c.914C>T	ENSP00000514272.1:n.914C>T
ENST00000699292.1:n.1324C>T
ENST00000225275.4:c.1789C>T MANE Select	ENSP00000225275.3:p.Pro597Ser
ENST00000225275.3:c.1789C>T	ENSP00000225275.3:p.Pro597Ser
ENST00000577220.1:c.183+64C>T	ENSP00000464668.1:n.183+64C>T
NM_000250.1:c.1789C>T , LRG_84t1:c.1789C>T	NP_000241.1:p.Pro597Ser
XM_011524821.1:c.1975C>T	XP_011523123.1:p.Pro659Ser
XM_011524822.1:c.1504C>T	XP_011523124.1:p.Pro502Ser
NM_000250.2:c.1789C>T MANE Select	NP_000241.1:p.Pro597Ser