Canonical Allele Identifier: CA384327991
Gene: SSPN HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.26195707G>C
GRCh37 chr12:g.26348640G>C
Revel Score:
ENST00000242729 (MANE Select) 0.025
ENST00000535504 0.025
gnomAD v2:
12:26348640 G / C
gnomAD v3:
12:26195707 G / C
gnomAD v4:
chr12-26195707-G-C
Joint Max Group AF 0.00003838 (EAS)
ClinVar RCV:
RCV004321224
ClinVar Variation:
2547158
dbSNP:
1399627974
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.26195707G>C , CM000674.2:g.26195707G>C GRCh38
NC_000012.11:g.26348640G>C , CM000674.1:g.26348640G>C GRCh37
NC_000012.10:g.26239907G>C NCBI36
NG_012011.2:g.78717G>C , LRG_209:g.78717G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242729.7:c.35G>C MANE Select ENSP00000242729.2:p.Arg12Thr
ENST00000242729.6:c.35G>C ENSP00000242729.2:p.Arg12Thr
ENST00000422622.3:c.-31+176G>C ENSP00000396087.2:n.-31+176G>C
ENST00000534829.5:n.102-57161G>C
ENST00000535504.1:c.35G>C ENSP00000438801.1:p.Arg12Thr
ENST00000538142.5:c.-30-28586G>C ENSP00000445360.1:n.-30-28586G>C
ENST00000540266.5:c.-30-28586G>C ENSP00000442893.1:n.-30-28586G>C
ENST00000544231.1:n.176+176G>C
NM_001135823.1:c.-31+176G>C , LRG_209t1:c.-31+176G>C NP_001129295.1:n.-31+176G>C
NM_005086.4:c.35G>C , LRG_209t2:c.35G>C NP_005077.2:p.Arg12Thr
XM_011520853.1:c.-30-28586G>C XP_011519155.1:n.-30-28586G>C
XM_011520855.1:c.-30-28586G>C XP_011519157.1:n.-30-28586G>C
XM_011520853.3:c.-30-28586G>C XP_011519155.1:n.-30-28586G>C
XM_011520855.2:c.-30-28586G>C XP_011519157.1:n.-30-28586G>C
NM_005086.5:c.35G>C MANE Select NP_005077.2:p.Arg12Thr
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