Canonical Allele Identifier: CA353559

Gene: VPS13C

Linked Data

• ClinVar Variation Id: 222067
• ClinVar RCV Id: RCV000210216 ; RCV000236364
• dbSNP Id: rs869312809
• MyVariant Identifiers: chr15:g.62207830A>C (hg19) ; chr15:g.61915631A>C (hg38)
• PubMed: PMID:26942284

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.61915631A>C , CM000677.2:g.61915631A>C	GRCh38
NC_000015.9:g.62207830A>C , CM000677.1:g.62207830A>C	GRCh37
NC_000015.8:g.59995122A>C	NCBI36
NG_027782.1:g.149835T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644861.2:c.8445+2T>G MANE Select	ENSP00000493560.2:n.8445+2T>G
ENST00000645819.1:c.8445+2T>G	ENSP00000496179.1:n.8445+2T>G
ENST00000649766.1:c.1054+2T>G
ENST00000650094.1:c.4172+2T>G	ENSP00000497607.1:n.4172+2T>G
ENST00000249837.7:c.8316+2T>G	ENSP00000249837.3:n.8316+2T>G
ENST00000261517.9:c.8445+2T>G	ENSP00000261517.5:n.8445+2T>G
ENST00000395896.8:c.8445+2T>G	ENSP00000379233.4:n.8445+2T>G
ENST00000395898.3:c.8316+2T>G	ENSP00000379235.3:n.8316+2T>G
ENST00000558338.1:n.582+2T>G
NM_001018088.2:c.8445+2T>G	NP_001018098.1:n.8445+2T>G
NM_017684.4:c.8316+2T>G	NP_060154.3:n.8316+2T>G
NM_018080.3:c.8316+2T>G	NP_060550.2:n.8316+2T>G
NM_020821.2:c.8445+2T>G	NP_065872.1:n.8445+2T>G
XM_011521713.1:c.8445+2T>G	XP_011520015.1:n.8445+2T>G
XR_931854.1:n.8497+2T>G
XR_931855.1:n.8497+2T>G
XM_011521713.3:c.8445+2T>G	XP_011520015.1:n.8445+2T>G
XR_001751332.1:n.8497+2T>G
XR_931855.2:n.8497+2T>G
NM_017684.5:c.8316+2T>G	NP_060154.3:n.8316+2T>G
NM_020821.3:c.8445+2T>G MANE Select	NP_065872.1:n.8445+2T>G
NM_001018088.3:c.8445+2T>G	NP_001018098.1:n.8445+2T>G
NM_018080.4:c.8316+2T>G	NP_060550.2:n.8316+2T>G