Canonical Allele Identifier: CA1969344392
Gene: SPI1 HGNC NCBI

Linked Data

dbSNP Id: rs1057233
JSON-LD

Genomic Alleles

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

Transcript Alleles

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