Canonical Allele Identifier: CA10659189
Gene: SPSB1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.9351410G>C
GRCh37 chr1:g.9411469G>C
gnomAD v2:
1:9411469 G / C
gnomAD v3:
1:9351410 G / C
gnomAD v4:
chr1-9351410-G-C
Joint Max Group AF 0.32668666 (NFE)
Genomes Max Group AF 0.32669506 (NFE)
Exomes Max Group AF 0.0975933 (NFE)
dbSNP:
11121382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9351410G>C , CM000663.2:g.9351410G>C GRCh38
NC_000001.10:g.9411469G>C , CM000663.1:g.9411469G>C GRCh37
NC_000001.9:g.9334056G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000328089.11:c.-149-4333G>C MANE Select ENSP00000330221.6:n.-149-4333G>C
ENST00000328089.10:c.-149-4333G>C ENSP00000330221.6:n.-149-4333G>C
ENST00000450402.1:c.-149-4333G>C ENSP00000409235.1:n.-149-4333G>C
NM_025106.3:c.-149-4333G>C NP_079382.2:n.-149-4333G>C
NM_025106.4:c.-149-4333G>C MANE Select NP_079382.2:n.-149-4333G>C
Search 100 bp 5'
Search 100 bp 3'