Canonical Allele Identifier: CA271893470

Gene: VPS13C

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.62040781A>G , CM000677.2:g.62040781A>G	GRCh38
NC_000015.9:g.62332980A>G , CM000677.1:g.62332980A>G	GRCh37
NC_000015.8:g.60120272A>G	NCBI36
NG_027782.1:g.24685T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644861.2:c.187+543T>C MANE Select	ENSP00000493560.2:n.187+543T>C
ENST00000645819.1:c.187+543T>C	ENSP00000496179.1:n.187+543T>C
ENST00000249837.7:c.187+543T>C	ENSP00000249837.3:n.187+543T>C
ENST00000261517.9:c.187+543T>C	ENSP00000261517.5:n.187+543T>C
ENST00000395896.8:c.187+543T>C	ENSP00000379233.4:n.187+543T>C
ENST00000395898.3:c.187+543T>C	ENSP00000379235.3:n.187+543T>C
NM_001018088.2:c.187+543T>C	NP_001018098.1:n.187+543T>C
NM_017684.4:c.187+543T>C	NP_060154.3:n.187+543T>C
NM_018080.3:c.187+543T>C	NP_060550.2:n.187+543T>C
NM_020821.2:c.187+543T>C	NP_065872.1:n.187+543T>C
XM_011521713.1:c.187+543T>C	XP_011520015.1:n.187+543T>C
XM_011521714.1:c.187+543T>C	XP_011520016.1:n.187+543T>C
XR_931854.1:n.239+543T>C
XR_931855.1:n.239+543T>C
XM_011521713.3:c.187+543T>C	XP_011520015.1:n.187+543T>C
XM_011521714.2:c.187+543T>C	XP_011520016.1:n.187+543T>C
XR_001751332.1:n.239+543T>C
XR_931855.2:n.239+543T>C
NM_017684.5:c.187+543T>C	NP_060154.3:n.187+543T>C
NM_020821.3:c.187+543T>C MANE Select	NP_065872.1:n.187+543T>C
NM_001018088.3:c.187+543T>C	NP_001018098.1:n.187+543T>C
NM_018080.4:c.187+543T>C	NP_060550.2:n.187+543T>C