Canonical Allele Identifier: CA1969344391
Gene: SPI1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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