Canonical Allele Identifier: CA6487871
Gene: SSPN HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.26195871G>A
GRCh37 chr12:g.26348804G>A
Revel Score:
ENST00000242729 (MANE Select) 0.190
ENST00000441067 0.190
ENST00000535504 0.190
gnomAD v2:
12:26348804 G / A
gnomAD v3:
12:26195871 G / A
gnomAD v4:
chr12-26195871-G-A
Joint Max Group AF 0.00000815 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000663 (NFE)
ClinVar RCV:
RCV004311755
ClinVar Variation:
2540384
dbSNP:
757400687
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26195871G>A , CM000674.2:g.26195871G>A GRCh38
NC_000012.11:g.26348804G>A , CM000674.1:g.26348804G>A GRCh37
NC_000012.10:g.26240071G>A NCBI36
NG_012011.2:g.78881G>A , LRG_209:g.78881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242729.7:c.199G>A MANE Select ENSP00000242729.2:p.Val67Met
ENST00000242729.6:c.199G>A ENSP00000242729.2:p.Val67Met
ENST00000422622.3:c.-31+340G>A ENSP00000396087.2:n.-31+340G>A
ENST00000534829.5:n.102-56997G>A
ENST00000535504.1:c.199G>A ENSP00000438801.1:p.Val67Met
ENST00000538142.5:c.-30-28422G>A ENSP00000445360.1:n.-30-28422G>A
ENST00000540266.5:c.-30-28422G>A ENSP00000442893.1:n.-30-28422G>A
ENST00000544231.1:n.176+340G>A
NM_001135823.1:c.-31+340G>A , LRG_209t1:c.-31+340G>A NP_001129295.1:n.-31+340G>A
NM_005086.4:c.199G>A , LRG_209t2:c.199G>A NP_005077.2:p.Val67Met
XM_011520853.1:c.-30-28422G>A XP_011519155.1:n.-30-28422G>A
XM_011520855.1:c.-30-28422G>A XP_011519157.1:n.-30-28422G>A
XM_011520853.3:c.-30-28422G>A XP_011519155.1:n.-30-28422G>A
XM_011520855.2:c.-30-28422G>A XP_011519157.1:n.-30-28422G>A
NM_005086.5:c.199G>A MANE Select NP_005077.2:p.Val67Met
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