Canonical Allele Identifier: CA13381736

Gene: SPI1

Linked Data

• dbSNP Id: rs1057233
• gnomAD v2: 11-47376448-G-A
• gnomAD v3: 11-47354897-G-A
• gnomAD v4: 11-47354897-G-A
• MyVariant Identifiers: chr11:g.47376448G>A (hg19) ; chr11:g.47354897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47354897G>A , CM000673.2:g.47354897G>A	GRCh38
NC_000011.9:g.47376448G>A , CM000673.1:g.47376448G>A	GRCh37
NC_000011.8:g.47333024G>A	NCBI36
NG_007667.1:g.2806C>T , LRG_386:g.2806C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000713542.1:c.*587C>T	ENSP00000518838.1:n.*587C>T
ENST00000713543.1:c.*330C>T	ENSP00000518839.1:n.*330C>T
ENST00000378538.8:c.*330C>T MANE Select	ENSP00000367799.4:n.*330C>T
ENST00000378538.7:c.*330C>T	ENSP00000367799.3:n.*330C>T
NM_001080547.1:c.*330C>T	NP_001074016.1:n.*330C>T
NM_003120.2:c.*330C>T	NP_003111.2:n.*330C>T
XM_011520305.1:c.*330C>T	XP_011518607.1:n.*330C>T
XM_011520306.1:c.*330C>T	XP_011518608.1:n.*330C>T
XM_011520307.1:c.*330C>T	XP_011518609.1:n.*330C>T
XM_011520308.1:c.*330C>T	XP_011518610.1:n.*330C>T
XM_017018173.1:c.*330C>T	XP_016873662.1:n.*330C>T
NM_001080547.2:c.*330C>T	NP_001074016.1:n.*330C>T
NM_003120.3:c.*330C>T MANE Select	NP_003111.2:n.*330C>T