Canonical Allele Identifier: CA740442463
Gene: SPSB1 HGNC NCBI

Linked Data

dbSNP Id: rs1339250058
gnomAD v3: 1-9348807-T-G
gnomAD v4: 1-9348807-T-G
MyVariant Identifiers: chr1:g.9408866T>G (hg19) chr1:g.9348807T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9348807T>G , CM000663.2:g.9348807T>G GRCh38
NC_000001.10:g.9408866T>G , CM000663.1:g.9408866T>G GRCh37
NC_000001.9:g.9331453T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000328089.11:c.-149-6936T>G MANE Select ENSP00000330221.6:n.-149-6936T>G
ENST00000328089.10:c.-149-6936T>G ENSP00000330221.6:n.-149-6936T>G
ENST00000450402.1:c.-149-6936T>G ENSP00000409235.1:n.-149-6936T>G
NM_025106.3:c.-149-6936T>G NP_079382.2:n.-149-6936T>G
NM_025106.4:c.-149-6936T>G MANE Select NP_079382.2:n.-149-6936T>G
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