Canonical Allele Identifier: CA371790315

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861809-G-T
• MyVariant Identifiers: chr8:g.100874037G>T (hg19) ; chr8:g.99861809G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861809G>T , CM000670.2:g.99861809G>T	GRCh38
NC_000008.10:g.100874037G>T , CM000670.1:g.100874037G>T	GRCh37
NC_000008.9:g.100943213G>T	NCBI36
NG_007098.2:g.853544G>T , LRG_351:g.853544G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*247G>T	ENSP00000507923.1:n.*247G>T
ENST00000682358.1:n.11223G>T
ENST00000683334.1:c.*6835G>T	ENSP00000507369.1:n.*6835G>T
ENST00000357162.7:c.11078G>T MANE Select	ENSP00000349685.2:p.Ser3693Ile
ENST00000358544.7:c.11153G>T MANE Plus Clinical	ENSP00000351346.2:p.Ser3718Ile
ENST00000357162.6:c.11078G>T	ENSP00000349685.2:p.Ser3693Ile
ENST00000358544.6:c.11153G>T	ENSP00000351346.2:p.Ser3718Ile
NM_017890.4:c.11153G>T , LRG_351t1:c.11153G>T	NP_060360.3:p.Ser3718Ile
NM_152564.4:c.11078G>T , LRG_351t2:c.11078G>T	NP_689777.3:p.Ser3693Ile
XM_005250800.2:c.11153G>T	XP_005250857.1:p.Ser3718Ile
XM_005250801.3:c.11153G>T	XP_005250858.1:p.Ser3718Ile
XM_011516848.1:c.11150G>T	XP_011515150.1:p.Ser3717Ile
XM_011516849.1:c.11075G>T	XP_011515151.1:p.Ser3692Ile
XM_011516850.1:c.10775G>T	XP_011515152.1:p.Ser3592Ile
XM_011516851.1:c.8039G>T	XP_011515153.1:p.Ser2680Ile
XM_011516852.1:c.8039G>T	XP_011515154.1:p.Ser2680Ile
XM_011516854.1:c.6932G>T	XP_011515156.1:p.Ser2311Ile
XM_005250800.3:c.11153G>T	XP_005250857.1:p.Ser3718Ile
XM_005250801.5:c.11153G>T	XP_005250858.1:p.Ser3718Ile
XM_011516848.2:c.11150G>T	XP_011515150.1:p.Ser3717Ile
XM_011516849.2:c.11075G>T	XP_011515151.1:p.Ser3692Ile
XM_011516850.2:c.10775G>T	XP_011515152.1:p.Ser3592Ile
XM_011516851.2:c.8039G>T	XP_011515153.1:p.Ser2680Ile
XM_011516852.2:c.8039G>T	XP_011515154.1:p.Ser2680Ile
XM_011516854.2:c.6932G>T	XP_011515156.1:p.Ser2311Ile
XM_017013109.1:c.10958G>T	XP_016868598.1:p.Ser3653Ile
XM_017013111.1:c.8039G>T	XP_016868600.1:p.Ser2680Ile
XM_017013112.1:c.6710G>T	XP_016868601.1:p.Ser2237Ile
XM_024447074.1:c.9938G>T	XP_024302842.1:p.Ser3313Ile
NM_017890.5:c.11153G>T MANE Plus Clinical	NP_060360.3:p.Ser3718Ile
NM_152564.5:c.11078G>T MANE Select	NP_689777.3:p.Ser3693Ile