Canonical Allele Identifier: CA1969347642

Gene: SPI1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47358789G= , CM000673.2:g.47358789G=	GRCh38
NC_000011.9:g.47380340G= , CM000673.1:g.47380340G=	GRCh37
NC_000011.8:g.47336916G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713542.1:c.493+55C=	ENSP00000518838.1:n.493+55C=
ENST00000713543.1:c.232+55C=	ENSP00000518839.1:n.232+55C=
ENST00000378538.8:c.493+55C= MANE Select	ENSP00000367799.4:n.493+55C=
ENST00000227163.8:c.496+55C=	ENSP00000227163.4:n.496+55C=
ENST00000378538.7:c.493+55C=	ENSP00000367799.3:n.493+55C=
ENST00000533030.1:c.46-3243C=	ENSP00000443865.1:n.46-3243C=
ENST00000533968.1:c.548C=	ENSP00000438846.1:p.Ala183=
NM_001080547.1:c.496+55C=	NP_001074016.1:n.496+55C=
NM_003120.2:c.493+55C=	NP_003111.2:n.493+55C=
XM_011520305.1:c.232+55C=	XP_011518607.1:n.232+55C=
XM_011520306.1:c.232+55C=	XP_011518608.1:n.232+55C=
XM_011520307.1:c.232+55C=	XP_011518609.1:n.232+55C=
XM_011520308.1:c.232+55C=	XP_011518610.1:n.232+55C=
XM_017018173.1:c.232+55C=	XP_016873662.1:n.232+55C=
NM_001080547.2:c.496+55C=	NP_001074016.1:n.496+55C=
NM_003120.3:c.493+55C= MANE Select	NP_003111.2:n.493+55C=