Canonical Allele Identifier: CA371875598

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789032C>A (hg19) ; chr8:g.99776804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776804C>A , CM000670.2:g.99776804C>A	GRCh38
NC_000008.10:g.100789032C>A , CM000670.1:g.100789032C>A	GRCh37
NC_000008.9:g.100858208C>A	NCBI36
NG_007098.2:g.768539C>A , LRG_351:g.768539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7352C>A	ENSP00000507923.1:p.Thr2451Asn
ENST00000682358.1:n.7422C>A
ENST00000683334.1:c.*3034C>A	ENSP00000507369.1:n.*3034C>A
ENST00000357162.7:c.7277C>A MANE Select	ENSP00000349685.2:p.Thr2426Asn
ENST00000358544.7:c.7352C>A MANE Plus Clinical	ENSP00000351346.2:p.Thr2451Asn
ENST00000357162.6:c.7277C>A	ENSP00000349685.2:p.Thr2426Asn
ENST00000358544.6:c.7352C>A	ENSP00000351346.2:p.Thr2451Asn
ENST00000518569.1:n.378-1878C>A
NM_017890.4:c.7352C>A , LRG_351t1:c.7352C>A	NP_060360.3:p.Thr2451Asn
NM_152564.4:c.7277C>A , LRG_351t2:c.7277C>A	NP_689777.3:p.Thr2426Asn
XM_005250800.2:c.7352C>A	XP_005250857.1:p.Thr2451Asn
XM_005250801.3:c.7352C>A	XP_005250858.1:p.Thr2451Asn
XM_011516848.1:c.7349C>A	XP_011515150.1:p.Thr2450Asn
XM_011516849.1:c.7274C>A	XP_011515151.1:p.Thr2425Asn
XM_011516850.1:c.6974C>A	XP_011515152.1:p.Thr2325Asn
XM_011516851.1:c.4238C>A	XP_011515153.1:p.Thr1413Asn
XM_011516852.1:c.4238C>A	XP_011515154.1:p.Thr1413Asn
XM_011516853.1:c.7352C>A	XP_011515155.1:p.Thr2451Asn
XM_011516854.1:c.3131C>A	XP_011515156.1:p.Thr1044Asn
XR_928446.1:n.1830+5674G>T
XM_005250800.3:c.7352C>A	XP_005250857.1:p.Thr2451Asn
XM_005250801.5:c.7352C>A	XP_005250858.1:p.Thr2451Asn
XM_011516848.2:c.7349C>A	XP_011515150.1:p.Thr2450Asn
XM_011516849.2:c.7274C>A	XP_011515151.1:p.Thr2425Asn
XM_011516850.2:c.6974C>A	XP_011515152.1:p.Thr2325Asn
XM_011516851.2:c.4238C>A	XP_011515153.1:p.Thr1413Asn
XM_011516852.2:c.4238C>A	XP_011515154.1:p.Thr1413Asn
XM_011516853.2:c.7352C>A	XP_011515155.1:p.Thr2451Asn
XM_011516854.2:c.3131C>A	XP_011515156.1:p.Thr1044Asn
XM_017013109.1:c.7157C>A	XP_016868598.1:p.Thr2386Asn
XM_017013111.1:c.4238C>A	XP_016868600.1:p.Thr1413Asn
XM_017013112.1:c.2909C>A	XP_016868601.1:p.Thr970Asn
XM_024447074.1:c.6137C>A	XP_024302842.1:p.Thr2046Asn
NM_017890.5:c.7352C>A MANE Plus Clinical	NP_060360.3:p.Thr2451Asn
NM_152564.5:c.7277C>A MANE Select	NP_689777.3:p.Thr2426Asn