Canonical Allele Identifier: CA371867053

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99481797-A-T
• MyVariant Identifiers: chr8:g.100494025A>T (hg19) ; chr8:g.99481797A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99481797A>T , CM000670.2:g.99481797A>T	GRCh38
NC_000008.10:g.100494025A>T , CM000670.1:g.100494025A>T	GRCh37
NC_000008.9:g.100563201A>T	NCBI36
NG_007098.2:g.473532A>T , LRG_351:g.473532A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.3862A>T	ENSP00000347281.2:p.Thr1288Ser
ENST00000682145.1:n.3742A>T
ENST00000682153.1:c.3865A>T	ENSP00000507923.1:p.Thr1289Ser
ENST00000682234.1:c.*416A>T	ENSP00000508225.1:n.*416A>T
ENST00000682358.1:n.3935A>T
ENST00000683334.1:c.3865A>T	ENSP00000507369.1:p.Thr1289Ser
ENST00000683619.1:n.4037A>T
ENST00000357162.7:c.3865A>T MANE Select	ENSP00000349685.2:p.Thr1289Ser
ENST00000358544.7:c.3865A>T MANE Plus Clinical	ENSP00000351346.2:p.Thr1289Ser
ENST00000357162.6:c.3865A>T	ENSP00000349685.2:p.Thr1289Ser
ENST00000358544.6:c.3865A>T	ENSP00000351346.2:p.Thr1289Ser
ENST00000496144.5:c.3865A>T	ENSP00000430900.1:p.Thr1289Ser
NM_017890.4:c.3865A>T , LRG_351t1:c.3865A>T	NP_060360.3:p.Thr1289Ser
NM_152564.4:c.3865A>T , LRG_351t2:c.3865A>T	NP_689777.3:p.Thr1289Ser
XM_005250800.2:c.3865A>T	XP_005250857.1:p.Thr1289Ser
XM_005250801.3:c.3865A>T	XP_005250858.1:p.Thr1289Ser
XM_006716510.2:c.3865A>T	XP_006716573.1:p.Thr1289Ser
XM_011516848.1:c.3862A>T	XP_011515150.1:p.Thr1288Ser
XM_011516849.1:c.3865A>T	XP_011515151.1:p.Thr1289Ser
XM_011516850.1:c.3487A>T	XP_011515152.1:p.Thr1163Ser
XM_011516851.1:c.751A>T	XP_011515153.1:p.Thr251Ser
XM_011516852.1:c.751A>T	XP_011515154.1:p.Thr251Ser
XM_011516853.1:c.3865A>T	XP_011515155.1:p.Thr1289Ser
XM_011516855.1:c.3865A>T	XP_011515157.1:p.Thr1289Ser
XM_011516856.1:c.3865A>T	XP_011515158.1:p.Thr1289Ser
XM_011516857.1:c.3865A>T	XP_011515159.1:p.Thr1289Ser
XM_011516858.1:c.3865A>T	XP_011515160.1:p.Thr1289Ser
XR_928301.1:n.3968A>T
XR_928302.1:n.3968A>T
XR_928303.1:n.3968A>T
XR_928304.1:n.3968A>T
XM_005250800.3:c.3865A>T	XP_005250857.1:p.Thr1289Ser
XM_005250801.5:c.3865A>T	XP_005250858.1:p.Thr1289Ser
XM_006716510.3:c.3865A>T	XP_006716573.1:p.Thr1289Ser
XM_011516848.2:c.3862A>T	XP_011515150.1:p.Thr1288Ser
XM_011516849.2:c.3865A>T	XP_011515151.1:p.Thr1289Ser
XM_011516850.2:c.3487A>T	XP_011515152.1:p.Thr1163Ser
XM_011516851.2:c.751A>T	XP_011515153.1:p.Thr251Ser
XM_011516852.2:c.751A>T	XP_011515154.1:p.Thr251Ser
XM_011516853.2:c.3865A>T	XP_011515155.1:p.Thr1289Ser
XM_011516854.2:c.-324A>T	XP_011515156.1:n.-324A>T
XM_017013109.1:c.3670A>T	XP_016868598.1:p.Thr1224Ser
XM_017013111.1:c.751A>T	XP_016868600.1:p.Thr251Ser
XM_017013112.1:c.-646A>T	XP_016868601.1:n.-646A>T
XM_024447074.1:c.2650A>T	XP_024302842.1:p.Thr884Ser
XR_001745481.1:n.3968A>T
XR_001745482.2:n.3968A>T
XR_001745484.2:n.3984A>T
XR_002956601.1:n.3965A>T
XR_002956602.1:n.3984A>T
XR_928302.2:n.3968A>T
NM_017890.5:c.3865A>T MANE Plus Clinical	NP_060360.3:p.Thr1289Ser
NM_152564.5:c.3865A>T MANE Select	NP_689777.3:p.Thr1289Ser