Canonical Allele Identifier: CA17780136
Gene: SPSB1 HGNC NCBI

Linked Data

dbSNP Id: rs923907618
gnomAD v2: 1-9408811-C-T
gnomAD v3: 1-9348752-C-T
gnomAD v4: 1-9348752-C-T
MyVariant Identifiers: chr1:g.9408811C>T (hg19) chr1:g.9348752C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9348752C>T , CM000663.2:g.9348752C>T GRCh38
NC_000001.10:g.9408811C>T , CM000663.1:g.9408811C>T GRCh37
NC_000001.9:g.9331398C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000328089.11:c.-149-6991C>T MANE Select ENSP00000330221.6:n.-149-6991C>T
ENST00000328089.10:c.-149-6991C>T ENSP00000330221.6:n.-149-6991C>T
ENST00000450402.1:c.-149-6991C>T ENSP00000409235.1:n.-149-6991C>T
NM_025106.3:c.-149-6991C>T NP_079382.2:n.-149-6991C>T
NM_025106.4:c.-149-6991C>T MANE Select NP_079382.2:n.-149-6991C>T
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