Canonical Allele Identifier: CA13381736
Gene: SPI1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47354897G>A
GRCh37 chr11:g.47376448G>A
gnomAD v2:
11:47376448 G / A
gnomAD v3:
11:47354897 G / A
gnomAD v4:
chr11-47354897-G-A
Joint Max Group AF 0.73857308 (AFR)
Genomes Max Group AF 0.73886221 (AFR)
Exomes Max Group AF 0.70959347 (AFR)
dbSNP:
1057233
JSON-LD

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
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