Canonical Allele Identifier: CA1969352671

Gene: SPI1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47369488C>A , CM000673.2:g.47369488C>A	GRCh38
NC_000011.9:g.47391039C>A , CM000673.1:g.47391039C>A	GRCh37
NC_000011.8:g.47347615C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000713542.1:c.142+6145G>T	ENSP00000518838.1:n.142+6145G>T
ENST00000713543.1:c.-120+6145G>T	ENSP00000518839.1:n.-120+6145G>T
ENST00000378538.8:c.142+6145G>T MANE Select	ENSP00000367799.4:n.142+6145G>T
ENST00000227163.8:c.145+6145G>T	ENSP00000227163.4:n.145+6145G>T
ENST00000378538.7:c.142+6145G>T	ENSP00000367799.3:n.142+6145G>T
ENST00000533030.1:c.45+8821G>T	ENSP00000443865.1:n.45+8821G>T
ENST00000533968.1:c.142+6145G>T	ENSP00000438846.1:n.142+6145G>T
NM_001080547.1:c.145+6145G>T	NP_001074016.1:n.145+6145G>T
NM_003120.2:c.142+6145G>T	NP_003111.2:n.142+6145G>T
XM_011520305.1:c.-120+6145G>T	XP_011518607.1:n.-120+6145G>T
XM_011520306.1:c.-120+6145G>T	XP_011518608.1:n.-120+6145G>T
XM_011520307.1:c.-120+6145G>T	XP_011518609.1:n.-120+6145G>T
XM_011520308.1:c.-120+6145G>T	XP_011518610.1:n.-120+6145G>T
XM_017018173.1:c.-120+6145G>T	XP_016873662.1:n.-120+6145G>T
NM_001080547.2:c.145+6145G>T	NP_001074016.1:n.145+6145G>T
NM_003120.3:c.142+6145G>T MANE Select	NP_003111.2:n.142+6145G>T