Canonical Allele Identifier: CA16041262
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 371306
ClinVar RCV Id: RCV000412233
dbSNP Id: rs1057517168

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99832653G>T , CM000670.2:g.99832653G>T GRCh38
NC_000008.10:g.100844881G>T , CM000670.1:g.100844881G>T GRCh37
NC_000008.9:g.100914057G>T NCBI36
NG_007098.2:g.824388G>T , LRG_351:g.824388G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.9689+1G>T ENSP00000507923.1:n.9689+1G>T
ENST00000682358.1:n.9759+1G>T
ENST00000683334.1:c.*5371+1G>T ENSP00000507369.1:n.*5371+1G>T
ENST00000357162.7:c.9614+1G>T MANE Select ENSP00000349685.2:n.9614+1G>T
ENST00000358544.7:c.9689+1G>T MANE Plus Clinical ENSP00000351346.2:n.9689+1G>T
ENST00000357162.6:c.9614+1G>T ENSP00000349685.2:n.9614+1G>T
ENST00000358544.6:c.9689+1G>T ENSP00000351346.2:n.9689+1G>T
NM_017890.4:c.9689+1G>T , LRG_351t1:c.9689+1G>T NP_060360.3:n.9689+1G>T
NM_152564.4:c.9614+1G>T , LRG_351t2:c.9614+1G>T NP_689777.3:n.9614+1G>T
XM_005250800.2:c.9689+1G>T XP_005250857.1:n.9689+1G>T
XM_005250801.3:c.9689+1G>T XP_005250858.1:n.9689+1G>T
XM_011516848.1:c.9686+1G>T XP_011515150.1:n.9686+1G>T
XM_011516849.1:c.9611+1G>T XP_011515151.1:n.9611+1G>T
XM_011516850.1:c.9311+1G>T XP_011515152.1:n.9311+1G>T
XM_011516851.1:c.6575+1G>T XP_011515153.1:n.6575+1G>T
XM_011516852.1:c.6575+1G>T XP_011515154.1:n.6575+1G>T
XM_011516854.1:c.5468+1G>T XP_011515156.1:n.5468+1G>T
XM_005250800.3:c.9689+1G>T XP_005250857.1:n.9689+1G>T
XM_005250801.5:c.9689+1G>T XP_005250858.1:n.9689+1G>T
XM_011516848.2:c.9686+1G>T XP_011515150.1:n.9686+1G>T
XM_011516849.2:c.9611+1G>T XP_011515151.1:n.9611+1G>T
XM_011516850.2:c.9311+1G>T XP_011515152.1:n.9311+1G>T
XM_011516851.2:c.6575+1G>T XP_011515153.1:n.6575+1G>T
XM_011516852.2:c.6575+1G>T XP_011515154.1:n.6575+1G>T
XM_011516854.2:c.5468+1G>T XP_011515156.1:n.5468+1G>T
XM_017013109.1:c.9494+1G>T XP_016868598.1:n.9494+1G>T
XM_017013111.1:c.6575+1G>T XP_016868600.1:n.6575+1G>T
XM_017013112.1:c.5246+1G>T XP_016868601.1:n.5246+1G>T
XM_024447074.1:c.8474+1G>T XP_024302842.1:n.8474+1G>T
NM_017890.5:c.9689+1G>T MANE Plus Clinical NP_060360.3:n.9689+1G>T
NM_152564.5:c.9614+1G>T MANE Select NP_689777.3:n.9614+1G>T