Canonical Allele Identifier: CA371875596

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1491704
• ClinVar RCV Id: RCV001988838
• dbSNP Id: rs2130667997
• gnomAD v4: 8-99776803-A-G
• MyVariant Identifiers: chr8:g.100789031A>G (hg19) ; chr8:g.99776803A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776803A>G , CM000670.2:g.99776803A>G	GRCh38
NC_000008.10:g.100789031A>G , CM000670.1:g.100789031A>G	GRCh37
NC_000008.9:g.100858207A>G	NCBI36
NG_007098.2:g.768538A>G , LRG_351:g.768538A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7351A>G	ENSP00000507923.1:p.Thr2451Ala
ENST00000682358.1:n.7421A>G
ENST00000683334.1:c.*3033A>G	ENSP00000507369.1:n.*3033A>G
ENST00000357162.7:c.7276A>G MANE Select	ENSP00000349685.2:p.Thr2426Ala
ENST00000358544.7:c.7351A>G MANE Plus Clinical	ENSP00000351346.2:p.Thr2451Ala
ENST00000357162.6:c.7276A>G	ENSP00000349685.2:p.Thr2426Ala
ENST00000358544.6:c.7351A>G	ENSP00000351346.2:p.Thr2451Ala
ENST00000518569.1:n.378-1879A>G
NM_017890.4:c.7351A>G , LRG_351t1:c.7351A>G	NP_060360.3:p.Thr2451Ala
NM_152564.4:c.7276A>G , LRG_351t2:c.7276A>G	NP_689777.3:p.Thr2426Ala
XM_005250800.2:c.7351A>G	XP_005250857.1:p.Thr2451Ala
XM_005250801.3:c.7351A>G	XP_005250858.1:p.Thr2451Ala
XM_011516848.1:c.7348A>G	XP_011515150.1:p.Thr2450Ala
XM_011516849.1:c.7273A>G	XP_011515151.1:p.Thr2425Ala
XM_011516850.1:c.6973A>G	XP_011515152.1:p.Thr2325Ala
XM_011516851.1:c.4237A>G	XP_011515153.1:p.Thr1413Ala
XM_011516852.1:c.4237A>G	XP_011515154.1:p.Thr1413Ala
XM_011516853.1:c.7351A>G	XP_011515155.1:p.Thr2451Ala
XM_011516854.1:c.3130A>G	XP_011515156.1:p.Thr1044Ala
XR_928446.1:n.1830+5675T>C
XM_005250800.3:c.7351A>G	XP_005250857.1:p.Thr2451Ala
XM_005250801.5:c.7351A>G	XP_005250858.1:p.Thr2451Ala
XM_011516848.2:c.7348A>G	XP_011515150.1:p.Thr2450Ala
XM_011516849.2:c.7273A>G	XP_011515151.1:p.Thr2425Ala
XM_011516850.2:c.6973A>G	XP_011515152.1:p.Thr2325Ala
XM_011516851.2:c.4237A>G	XP_011515153.1:p.Thr1413Ala
XM_011516852.2:c.4237A>G	XP_011515154.1:p.Thr1413Ala
XM_011516853.2:c.7351A>G	XP_011515155.1:p.Thr2451Ala
XM_011516854.2:c.3130A>G	XP_011515156.1:p.Thr1044Ala
XM_017013109.1:c.7156A>G	XP_016868598.1:p.Thr2386Ala
XM_017013111.1:c.4237A>G	XP_016868600.1:p.Thr1413Ala
XM_017013112.1:c.2908A>G	XP_016868601.1:p.Thr970Ala
XM_024447074.1:c.6136A>G	XP_024302842.1:p.Thr2046Ala
NM_017890.5:c.7351A>G MANE Plus Clinical	NP_060360.3:p.Thr2451Ala
NM_152564.5:c.7276A>G MANE Select	NP_689777.3:p.Thr2426Ala