Canonical Allele Identifier: CA371792031

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868369-G-T
• MyVariant Identifiers: chr8:g.100880597G>T (hg19) ; chr8:g.99868369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868369G>T , CM000670.2:g.99868369G>T	GRCh38
NC_000008.10:g.100880597G>T , CM000670.1:g.100880597G>T	GRCh37
NC_000008.9:g.100949773G>T	NCBI36
NG_007098.2:g.860104G>T , LRG_351:g.860104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*465G>T	ENSP00000507923.1:n.*465G>T
ENST00000682358.1:n.11441G>T
ENST00000683334.1:c.*7053G>T	ENSP00000507369.1:n.*7053G>T
ENST00000357162.7:c.11296G>T MANE Select	ENSP00000349685.2:p.Ala3766Ser
ENST00000358544.7:c.11371G>T MANE Plus Clinical	ENSP00000351346.2:p.Ala3791Ser
ENST00000357162.6:c.11296G>T	ENSP00000349685.2:p.Ala3766Ser
ENST00000358544.6:c.11371G>T	ENSP00000351346.2:p.Ala3791Ser
ENST00000493587.1:n.313G>T
NM_017890.4:c.11371G>T , LRG_351t1:c.11371G>T	NP_060360.3:p.Ala3791Ser
NM_152564.4:c.11296G>T , LRG_351t2:c.11296G>T	NP_689777.3:p.Ala3766Ser
XM_005250800.2:c.11371G>T	XP_005250857.1:p.Ala3791Ser
XM_005250801.3:c.11371G>T	XP_005250858.1:p.Ala3791Ser
XM_011516848.1:c.11368G>T	XP_011515150.1:p.Ala3790Ser
XM_011516849.1:c.11293G>T	XP_011515151.1:p.Ala3765Ser
XM_011516850.1:c.10993G>T	XP_011515152.1:p.Ala3665Ser
XM_011516851.1:c.8257G>T	XP_011515153.1:p.Ala2753Ser
XM_011516852.1:c.8257G>T	XP_011515154.1:p.Ala2753Ser
XM_011516854.1:c.7150G>T	XP_011515156.1:p.Ala2384Ser
XM_005250800.3:c.11371G>T	XP_005250857.1:p.Ala3791Ser
XM_005250801.5:c.11371G>T	XP_005250858.1:p.Ala3791Ser
XM_011516848.2:c.11368G>T	XP_011515150.1:p.Ala3790Ser
XM_011516849.2:c.11293G>T	XP_011515151.1:p.Ala3765Ser
XM_011516850.2:c.10993G>T	XP_011515152.1:p.Ala3665Ser
XM_011516851.2:c.8257G>T	XP_011515153.1:p.Ala2753Ser
XM_011516852.2:c.8257G>T	XP_011515154.1:p.Ala2753Ser
XM_011516854.2:c.7150G>T	XP_011515156.1:p.Ala2384Ser
XM_017013109.1:c.11176G>T	XP_016868598.1:p.Ala3726Ser
XM_017013111.1:c.8257G>T	XP_016868600.1:p.Ala2753Ser
XM_017013112.1:c.6928G>T	XP_016868601.1:p.Ala2310Ser
XM_024447074.1:c.10156G>T	XP_024302842.1:p.Ala3386Ser
NM_017890.5:c.11371G>T MANE Plus Clinical	NP_060360.3:p.Ala3791Ser
NM_152564.5:c.11296G>T MANE Select	NP_689777.3:p.Ala3766Ser