Canonical Allele Identifier: CA353169052
Gene: SPCS1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52706166C>T
GRCh37 chr3:g.52740182C>T
Revel Score:
ENST00000233025 0.003
gnomAD v3:
3:52706166 C / T
gnomAD v4:
chr3-52706166-C-T
Joint Max Group AF 0.0000094 (SAS)
Genomes Max Group AF 0.00007296 (SAS)
Exomes Max Group AF 0.00001043 (AFR)
dbSNP:
6617
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52706166C>T , CM000665.2:g.52706166C>T GRCh38
NC_000003.11:g.52740182C>T , CM000665.1:g.52740182C>T GRCh37
NC_000003.10:g.52715222C>T NCBI36
NG_053026.1:g.69784G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619898.5:c.-81C>T MANE Select ENSP00000478310.2:n.-81C>T
ENST00000233025.11:c.121C>T ENSP00000233025.7:p.Pro41Ser
ENST00000423431.5:c.-30-478C>T ENSP00000391610.1:n.-30-478C>T
ENST00000448693.2:n.58C>T
ENST00000474945.1:n.24C>T
ENST00000602728.1:c.-81C>T ENSP00000473265.1:n.-81C>T
ENST00000619898.4:c.121C>T ENSP00000478310.1:p.Pro41Ser
NM_014041.3:c.121C>T NP_054760.3:p.Pro41Ser
NM_014041.4:c.-81C>T NP_054760.4:n.-81C>T
NM_014041.5:c.-81C>T MANE Select NP_054760.4:n.-81C>T
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