Canonical Allele Identifier: CA371781999

Gene: VPS13B

Linked Data

• dbSNP Id: rs1320220468
• gnomAD v2: 8-100844871-T-G
• gnomAD v4: 8-99832643-T-G
• MyVariant Identifiers: chr8:g.100844871T>G (hg19) ; chr8:g.99832643T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832643T>G , CM000670.2:g.99832643T>G	GRCh38
NC_000008.10:g.100844871T>G , CM000670.1:g.100844871T>G	GRCh37
NC_000008.9:g.100914047T>G	NCBI36
NG_007098.2:g.824378T>G , LRG_351:g.824378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9680T>G	ENSP00000507923.1:p.Phe3227Cys
ENST00000682358.1:n.9750T>G
ENST00000683334.1:c.*5362T>G	ENSP00000507369.1:n.*5362T>G
ENST00000357162.7:c.9605T>G MANE Select	ENSP00000349685.2:p.Phe3202Cys
ENST00000358544.7:c.9680T>G MANE Plus Clinical	ENSP00000351346.2:p.Phe3227Cys
ENST00000357162.6:c.9605T>G	ENSP00000349685.2:p.Phe3202Cys
ENST00000358544.6:c.9680T>G	ENSP00000351346.2:p.Phe3227Cys
NM_017890.4:c.9680T>G , LRG_351t1:c.9680T>G	NP_060360.3:p.Phe3227Cys
NM_152564.4:c.9605T>G , LRG_351t2:c.9605T>G	NP_689777.3:p.Phe3202Cys
XM_005250800.2:c.9680T>G	XP_005250857.1:p.Phe3227Cys
XM_005250801.3:c.9680T>G	XP_005250858.1:p.Phe3227Cys
XM_011516848.1:c.9677T>G	XP_011515150.1:p.Phe3226Cys
XM_011516849.1:c.9602T>G	XP_011515151.1:p.Phe3201Cys
XM_011516850.1:c.9302T>G	XP_011515152.1:p.Phe3101Cys
XM_011516851.1:c.6566T>G	XP_011515153.1:p.Phe2189Cys
XM_011516852.1:c.6566T>G	XP_011515154.1:p.Phe2189Cys
XM_011516854.1:c.5459T>G	XP_011515156.1:p.Phe1820Cys
XM_005250800.3:c.9680T>G	XP_005250857.1:p.Phe3227Cys
XM_005250801.5:c.9680T>G	XP_005250858.1:p.Phe3227Cys
XM_011516848.2:c.9677T>G	XP_011515150.1:p.Phe3226Cys
XM_011516849.2:c.9602T>G	XP_011515151.1:p.Phe3201Cys
XM_011516850.2:c.9302T>G	XP_011515152.1:p.Phe3101Cys
XM_011516851.2:c.6566T>G	XP_011515153.1:p.Phe2189Cys
XM_011516852.2:c.6566T>G	XP_011515154.1:p.Phe2189Cys
XM_011516854.2:c.5459T>G	XP_011515156.1:p.Phe1820Cys
XM_017013109.1:c.9485T>G	XP_016868598.1:p.Phe3162Cys
XM_017013111.1:c.6566T>G	XP_016868600.1:p.Phe2189Cys
XM_017013112.1:c.5237T>G	XP_016868601.1:p.Phe1746Cys
XM_024447074.1:c.8465T>G	XP_024302842.1:p.Phe2822Cys
NM_017890.5:c.9680T>G MANE Plus Clinical	NP_060360.3:p.Phe3227Cys
NM_152564.5:c.9605T>G MANE Select	NP_689777.3:p.Phe3202Cys