Canonical Allele Identifier: CA371781996

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100844870T>G (hg19) ; chr8:g.99832642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832642T>G , CM000670.2:g.99832642T>G	GRCh38
NC_000008.10:g.100844870T>G , CM000670.1:g.100844870T>G	GRCh37
NC_000008.9:g.100914046T>G	NCBI36
NG_007098.2:g.824377T>G , LRG_351:g.824377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9679T>G	ENSP00000507923.1:p.Phe3227Val
ENST00000682358.1:n.9749T>G
ENST00000683334.1:c.*5361T>G	ENSP00000507369.1:n.*5361T>G
ENST00000357162.7:c.9604T>G MANE Select	ENSP00000349685.2:p.Phe3202Val
ENST00000358544.7:c.9679T>G MANE Plus Clinical	ENSP00000351346.2:p.Phe3227Val
ENST00000357162.6:c.9604T>G	ENSP00000349685.2:p.Phe3202Val
ENST00000358544.6:c.9679T>G	ENSP00000351346.2:p.Phe3227Val
NM_017890.4:c.9679T>G , LRG_351t1:c.9679T>G	NP_060360.3:p.Phe3227Val
NM_152564.4:c.9604T>G , LRG_351t2:c.9604T>G	NP_689777.3:p.Phe3202Val
XM_005250800.2:c.9679T>G	XP_005250857.1:p.Phe3227Val
XM_005250801.3:c.9679T>G	XP_005250858.1:p.Phe3227Val
XM_011516848.1:c.9676T>G	XP_011515150.1:p.Phe3226Val
XM_011516849.1:c.9601T>G	XP_011515151.1:p.Phe3201Val
XM_011516850.1:c.9301T>G	XP_011515152.1:p.Phe3101Val
XM_011516851.1:c.6565T>G	XP_011515153.1:p.Phe2189Val
XM_011516852.1:c.6565T>G	XP_011515154.1:p.Phe2189Val
XM_011516854.1:c.5458T>G	XP_011515156.1:p.Phe1820Val
XM_005250800.3:c.9679T>G	XP_005250857.1:p.Phe3227Val
XM_005250801.5:c.9679T>G	XP_005250858.1:p.Phe3227Val
XM_011516848.2:c.9676T>G	XP_011515150.1:p.Phe3226Val
XM_011516849.2:c.9601T>G	XP_011515151.1:p.Phe3201Val
XM_011516850.2:c.9301T>G	XP_011515152.1:p.Phe3101Val
XM_011516851.2:c.6565T>G	XP_011515153.1:p.Phe2189Val
XM_011516852.2:c.6565T>G	XP_011515154.1:p.Phe2189Val
XM_011516854.2:c.5458T>G	XP_011515156.1:p.Phe1820Val
XM_017013109.1:c.9484T>G	XP_016868598.1:p.Phe3162Val
XM_017013111.1:c.6565T>G	XP_016868600.1:p.Phe2189Val
XM_017013112.1:c.5236T>G	XP_016868601.1:p.Phe1746Val
XM_024447074.1:c.8464T>G	XP_024302842.1:p.Phe2822Val
NM_017890.5:c.9679T>G MANE Plus Clinical	NP_060360.3:p.Phe3227Val
NM_152564.5:c.9604T>G MANE Select	NP_689777.3:p.Phe3202Val