Canonical Allele Identifier: CA6487943
Gene: SSPN HGNC NCBI
COSMIC:
COSM692681
MyVariant.info:
GRCh38 chr12:g.26230747G>T
GRCh37 chr12:g.26383680G>T
Revel Score:
ENST00000538142 0.098
ENST00000540266 0.098
ENST00000422622 0.098
ENST00000242729 (MANE Select) 0.098
ENST00000441067 0.098
gnomAD v2:
12:26383680 G / T
gnomAD v3:
12:26230747 G / T
gnomAD v4:
chr12-26230747-G-T
Joint Max Group AF 0.00038659 (EAS)
Genomes Max Group AF 0.00063279 (EAS)
Exomes Max Group AF 0.00029302 (EAS)
ClinVar RCV:
RCV004305677
ClinVar Variation:
2530905
dbSNP:
189138467
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26230747G>T , CM000674.2:g.26230747G>T GRCh38
NC_000012.11:g.26383680G>T , CM000674.1:g.26383680G>T GRCh37
NC_000012.10:g.26274947G>T NCBI36
NG_012011.2:g.113757G>T , LRG_209:g.113757G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242729.7:c.403G>T MANE Select ENSP00000242729.2:p.Val135Phe
ENST00000242729.6:c.403G>T ENSP00000242729.2:p.Val135Phe
ENST00000422622.3:c.94G>T ENSP00000396087.2:p.Val32Phe
ENST00000534829.5:n.102-22121G>T
ENST00000535504.1:c.366+6368G>T ENSP00000438801.1:n.366+6368G>T
ENST00000538142.5:c.94G>T ENSP00000445360.1:p.Val32Phe
ENST00000540266.5:c.94G>T ENSP00000442893.1:p.Val32Phe
ENST00000544231.1:n.263+6368G>T
NM_001135823.1:c.94G>T , LRG_209t1:c.94G>T NP_001129295.1:p.Val32Phe
NM_005086.4:c.403G>T , LRG_209t2:c.403G>T NP_005077.2:p.Val135Phe
XM_011520853.1:c.94G>T XP_011519155.1:p.Val32Phe
XM_011520854.1:c.94G>T XP_011519156.1:p.Val32Phe
XM_011520855.1:c.94G>T XP_011519157.1:p.Val32Phe
XM_011520853.3:c.94G>T XP_011519155.1:p.Val32Phe
XM_011520854.2:c.94G>T XP_011519156.1:p.Val32Phe
XM_011520855.2:c.94G>T XP_011519157.1:p.Val32Phe
NM_005086.5:c.403G>T MANE Select NP_005077.2:p.Val135Phe
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