Canonical Allele Identifier: CA371875814

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776908-G-A
• MyVariant Identifiers: chr8:g.100789136G>A (hg19) ; chr8:g.99776908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776908G>A , CM000670.2:g.99776908G>A	GRCh38
NC_000008.10:g.100789136G>A , CM000670.1:g.100789136G>A	GRCh37
NC_000008.9:g.100858312G>A	NCBI36
NG_007098.2:g.768643G>A , LRG_351:g.768643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7456G>A	ENSP00000507923.1:p.Ala2486Thr
ENST00000682358.1:n.7526G>A
ENST00000683334.1:c.*3138G>A	ENSP00000507369.1:n.*3138G>A
ENST00000357162.7:c.7381G>A MANE Select	ENSP00000349685.2:p.Ala2461Thr
ENST00000358544.7:c.7456G>A MANE Plus Clinical	ENSP00000351346.2:p.Ala2486Thr
ENST00000357162.6:c.7381G>A	ENSP00000349685.2:p.Ala2461Thr
ENST00000358544.6:c.7456G>A	ENSP00000351346.2:p.Ala2486Thr
ENST00000518569.1:n.378-1774G>A
NM_017890.4:c.7456G>A , LRG_351t1:c.7456G>A	NP_060360.3:p.Ala2486Thr
NM_152564.4:c.7381G>A , LRG_351t2:c.7381G>A	NP_689777.3:p.Ala2461Thr
XM_005250800.2:c.7456G>A	XP_005250857.1:p.Ala2486Thr
XM_005250801.3:c.7456G>A	XP_005250858.1:p.Ala2486Thr
XM_011516848.1:c.7453G>A	XP_011515150.1:p.Ala2485Thr
XM_011516849.1:c.7378G>A	XP_011515151.1:p.Ala2460Thr
XM_011516850.1:c.7078G>A	XP_011515152.1:p.Ala2360Thr
XM_011516851.1:c.4342G>A	XP_011515153.1:p.Ala1448Thr
XM_011516852.1:c.4342G>A	XP_011515154.1:p.Ala1448Thr
XM_011516853.1:c.7456G>A	XP_011515155.1:p.Ala2486Thr
XM_011516854.1:c.3235G>A	XP_011515156.1:p.Ala1079Thr
XR_928446.1:n.1830+5570C>T
XM_005250800.3:c.7456G>A	XP_005250857.1:p.Ala2486Thr
XM_005250801.5:c.7456G>A	XP_005250858.1:p.Ala2486Thr
XM_011516848.2:c.7453G>A	XP_011515150.1:p.Ala2485Thr
XM_011516849.2:c.7378G>A	XP_011515151.1:p.Ala2460Thr
XM_011516850.2:c.7078G>A	XP_011515152.1:p.Ala2360Thr
XM_011516851.2:c.4342G>A	XP_011515153.1:p.Ala1448Thr
XM_011516852.2:c.4342G>A	XP_011515154.1:p.Ala1448Thr
XM_011516853.2:c.7456G>A	XP_011515155.1:p.Ala2486Thr
XM_011516854.2:c.3235G>A	XP_011515156.1:p.Ala1079Thr
XM_017013109.1:c.7261G>A	XP_016868598.1:p.Ala2421Thr
XM_017013111.1:c.4342G>A	XP_016868600.1:p.Ala1448Thr
XM_017013112.1:c.3013G>A	XP_016868601.1:p.Ala1005Thr
XM_024447074.1:c.6241G>A	XP_024302842.1:p.Ala2081Thr
NM_017890.5:c.7456G>A MANE Plus Clinical	NP_060360.3:p.Ala2486Thr
NM_152564.5:c.7381G>A MANE Select	NP_689777.3:p.Ala2461Thr