Canonical Allele Identifier: CA15677565

Gene: SPI1

Linked Data

• dbSNP Id: rs10769258
• gnomAD v2: 11-47391039-C-T
• gnomAD v3: 11-47369488-C-T
• gnomAD v4: 11-47369488-C-T
• MyVariant Identifiers: chr11:g.47391039C>T (hg19) ; chr11:g.47369488C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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