Canonical Allele Identifier: CA371784603

Gene: VPS13B

Linked Data

• dbSNP Id: rs1333323439
• gnomAD v2: 8-100847904-C-A
• gnomAD v3: 8-99835676-C-A
• gnomAD v4: 8-99835676-C-A
• MyVariant Identifiers: chr8:g.100847904C>A (hg19) ; chr8:g.99835676C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835676C>A , CM000670.2:g.99835676C>A	GRCh38
NC_000008.10:g.100847904C>A , CM000670.1:g.100847904C>A	GRCh37
NC_000008.9:g.100917080C>A	NCBI36
NG_007098.2:g.827411C>A , LRG_351:g.827411C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.9955C>A	ENSP00000507923.1:p.Pro3319Thr
ENST00000682358.1:n.10025C>A
ENST00000683334.1:c.*5637C>A	ENSP00000507369.1:n.*5637C>A
ENST00000357162.7:c.9880C>A MANE Select	ENSP00000349685.2:p.Pro3294Thr
ENST00000358544.7:c.9955C>A MANE Plus Clinical	ENSP00000351346.2:p.Pro3319Thr
ENST00000357162.6:c.9880C>A	ENSP00000349685.2:p.Pro3294Thr
ENST00000358544.6:c.9955C>A	ENSP00000351346.2:p.Pro3319Thr
NM_017890.4:c.9955C>A , LRG_351t1:c.9955C>A	NP_060360.3:p.Pro3319Thr
NM_152564.4:c.9880C>A , LRG_351t2:c.9880C>A	NP_689777.3:p.Pro3294Thr
XM_005250800.2:c.9955C>A	XP_005250857.1:p.Pro3319Thr
XM_005250801.3:c.9955C>A	XP_005250858.1:p.Pro3319Thr
XM_011516848.1:c.9952C>A	XP_011515150.1:p.Pro3318Thr
XM_011516849.1:c.9877C>A	XP_011515151.1:p.Pro3293Thr
XM_011516850.1:c.9577C>A	XP_011515152.1:p.Pro3193Thr
XM_011516851.1:c.6841C>A	XP_011515153.1:p.Pro2281Thr
XM_011516852.1:c.6841C>A	XP_011515154.1:p.Pro2281Thr
XM_011516854.1:c.5734C>A	XP_011515156.1:p.Pro1912Thr
XM_005250800.3:c.9955C>A	XP_005250857.1:p.Pro3319Thr
XM_005250801.5:c.9955C>A	XP_005250858.1:p.Pro3319Thr
XM_011516848.2:c.9952C>A	XP_011515150.1:p.Pro3318Thr
XM_011516849.2:c.9877C>A	XP_011515151.1:p.Pro3293Thr
XM_011516850.2:c.9577C>A	XP_011515152.1:p.Pro3193Thr
XM_011516851.2:c.6841C>A	XP_011515153.1:p.Pro2281Thr
XM_011516852.2:c.6841C>A	XP_011515154.1:p.Pro2281Thr
XM_011516854.2:c.5734C>A	XP_011515156.1:p.Pro1912Thr
XM_017013109.1:c.9760C>A	XP_016868598.1:p.Pro3254Thr
XM_017013111.1:c.6841C>A	XP_016868600.1:p.Pro2281Thr
XM_017013112.1:c.5512C>A	XP_016868601.1:p.Pro1838Thr
XM_024447074.1:c.8740C>A	XP_024302842.1:p.Pro2914Thr
NM_017890.5:c.9955C>A MANE Plus Clinical	NP_060360.3:p.Pro3319Thr
NM_152564.5:c.9880C>A MANE Select	NP_689777.3:p.Pro3294Thr