Canonical Allele Identifier: CA7596551
Gene: VPS13C HGNC NCBI
COSMIC:
COSM6310246 (not active)
COSM6310247 (not active)
MyVariant.info:
GRCh38 chr15:g.61967438C>T
GRCh37 chr15:g.62259637C>T
Revel Score:
ENST00000249837 0.048
ENST00000261517 0.048
ENST00000395896 0.048
ENST00000395898 0.048
gnomAD v2:
15:62259637 C / T
gnomAD v3:
15:61967438 C / T
gnomAD v4:
chr15-61967438-C-T
Joint Max Group AF 0.86615006 (AFR)
Genomes Max Group AF 0.85933019 (AFR)
Exomes Max Group AF 0.86972906 (AFR)
ClinVar Allele:
1234109
ClinVar RCV:
RCV001644236
RCV002243351
ClinVar Variation:
1243337
dbSNP:
3784634
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.61967438C>T , CM000677.2:g.61967438C>T GRCh38
NC_000015.9:g.62259637C>T , CM000677.1:g.62259637C>T GRCh37
NC_000015.8:g.60046929C>T NCBI36
NG_027782.1:g.98028G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644861.2:c.2921G>A MANE Select ENSP00000493560.2:p.Arg974Lys
ENST00000645819.1:c.2921G>A ENSP00000496179.1:p.Arg974Lys
ENST00000249837.7:c.2792G>A ENSP00000249837.3:p.Arg931Lys
ENST00000261517.9:c.2921G>A ENSP00000261517.5:p.Arg974Lys
ENST00000395896.8:c.2921G>A ENSP00000379233.4:p.Arg974Lys
ENST00000395898.3:c.2792G>A ENSP00000379235.3:p.Arg931Lys
NM_001018088.2:c.2921G>A NP_001018098.1:p.Arg974Lys
NM_017684.4:c.2792G>A NP_060154.3:p.Arg931Lys
NM_018080.3:c.2792G>A NP_060550.2:p.Arg931Lys
NM_020821.2:c.2921G>A NP_065872.1:p.Arg974Lys
XM_011521713.1:c.2921G>A XP_011520015.1:p.Arg974Lys
XM_011521714.1:c.2921G>A XP_011520016.1:p.Arg974Lys
XR_931854.1:n.2973G>A
XR_931855.1:n.2973G>A
XM_011521713.3:c.2921G>A XP_011520015.1:p.Arg974Lys
XM_011521714.2:c.2921G>A XP_011520016.1:p.Arg974Lys
XR_001751332.1:n.2973G>A
XR_931855.2:n.2973G>A
NM_017684.5:c.2792G>A NP_060154.3:p.Arg931Lys
NM_020821.3:c.2921G>A MANE Select NP_065872.1:p.Arg974Lys
NM_001018088.3:c.2921G>A NP_001018098.1:p.Arg974Lys
NM_018080.4:c.2792G>A NP_060550.2:p.Arg931Lys
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