Canonical Allele Identifier: CA371875681

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776846-C-A
• MyVariant Identifiers: chr8:g.100789074C>A (hg19) ; chr8:g.99776846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776846C>A , CM000670.2:g.99776846C>A	GRCh38
NC_000008.10:g.100789074C>A , CM000670.1:g.100789074C>A	GRCh37
NC_000008.9:g.100858250C>A	NCBI36
NG_007098.2:g.768581C>A , LRG_351:g.768581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7394C>A	ENSP00000507923.1:p.Thr2465Asn
ENST00000682358.1:n.7464C>A
ENST00000683334.1:c.*3076C>A	ENSP00000507369.1:n.*3076C>A
ENST00000357162.7:c.7319C>A MANE Select	ENSP00000349685.2:p.Thr2440Asn
ENST00000358544.7:c.7394C>A MANE Plus Clinical	ENSP00000351346.2:p.Thr2465Asn
ENST00000357162.6:c.7319C>A	ENSP00000349685.2:p.Thr2440Asn
ENST00000358544.6:c.7394C>A	ENSP00000351346.2:p.Thr2465Asn
ENST00000518569.1:n.378-1836C>A
NM_017890.4:c.7394C>A , LRG_351t1:c.7394C>A	NP_060360.3:p.Thr2465Asn
NM_152564.4:c.7319C>A , LRG_351t2:c.7319C>A	NP_689777.3:p.Thr2440Asn
XM_005250800.2:c.7394C>A	XP_005250857.1:p.Thr2465Asn
XM_005250801.3:c.7394C>A	XP_005250858.1:p.Thr2465Asn
XM_011516848.1:c.7391C>A	XP_011515150.1:p.Thr2464Asn
XM_011516849.1:c.7316C>A	XP_011515151.1:p.Thr2439Asn
XM_011516850.1:c.7016C>A	XP_011515152.1:p.Thr2339Asn
XM_011516851.1:c.4280C>A	XP_011515153.1:p.Thr1427Asn
XM_011516852.1:c.4280C>A	XP_011515154.1:p.Thr1427Asn
XM_011516853.1:c.7394C>A	XP_011515155.1:p.Thr2465Asn
XM_011516854.1:c.3173C>A	XP_011515156.1:p.Thr1058Asn
XR_928446.1:n.1830+5632G>T
XM_005250800.3:c.7394C>A	XP_005250857.1:p.Thr2465Asn
XM_005250801.5:c.7394C>A	XP_005250858.1:p.Thr2465Asn
XM_011516848.2:c.7391C>A	XP_011515150.1:p.Thr2464Asn
XM_011516849.2:c.7316C>A	XP_011515151.1:p.Thr2439Asn
XM_011516850.2:c.7016C>A	XP_011515152.1:p.Thr2339Asn
XM_011516851.2:c.4280C>A	XP_011515153.1:p.Thr1427Asn
XM_011516852.2:c.4280C>A	XP_011515154.1:p.Thr1427Asn
XM_011516853.2:c.7394C>A	XP_011515155.1:p.Thr2465Asn
XM_011516854.2:c.3173C>A	XP_011515156.1:p.Thr1058Asn
XM_017013109.1:c.7199C>A	XP_016868598.1:p.Thr2400Asn
XM_017013111.1:c.4280C>A	XP_016868600.1:p.Thr1427Asn
XM_017013112.1:c.2951C>A	XP_016868601.1:p.Thr984Asn
XM_024447074.1:c.6179C>A	XP_024302842.1:p.Thr2060Asn
NM_017890.5:c.7394C>A MANE Plus Clinical	NP_060360.3:p.Thr2465Asn
NM_152564.5:c.7319C>A MANE Select	NP_689777.3:p.Thr2440Asn