Canonical Allele Identifier: CA380344980

Gene: SPI1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47355408T>G , CM000673.2:g.47355408T>G	GRCh38
NC_000011.9:g.47376959T>G , CM000673.1:g.47376959T>G	GRCh37
NC_000011.8:g.47333535T>G	NCBI36
NG_007667.1:g.2295A>C , LRG_386:g.2295A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003120.3:c.632A>C MANE Select	NP_003111.2:p.His211Pro
ENST00000378538.8:c.632A>C MANE Select	ENSP00000367799.4:p.His211Pro
NM_001080547.1:c.635A>C	NP_001074016.1:p.His212Pro
NM_001080547.2:c.635A>C	NP_001074016.1:p.His212Pro
NM_003120.2:c.632A>C	NP_003111.2:p.His211Pro
ENST00000227163.8:c.635A>C	ENSP00000227163.4:p.His212Pro
ENST00000378538.7:c.632A>C	ENSP00000367799.3:p.His211Pro
ENST00000533030.1:c.*76A>C	ENSP00000443865.1:n.*76A>C
ENST00000713542.1:c.*76A>C	ENSP00000518838.1:n.*76A>C
ENST00000713543.1:c.371A>C	ENSP00000518839.1:p.His124Pro
XM_011520305.1:c.371A>C	XP_011518607.1:p.His124Pro
XM_011520306.1:c.371A>C	XP_011518608.1:p.His124Pro
XM_011520307.1:c.371A>C	XP_011518609.1:p.His124Pro
XM_011520308.1:c.371A>C	XP_011518610.1:p.His124Pro
XM_017018173.1:c.371A>C	XP_016873662.1:p.His124Pro