Canonical Allele Identifier: CA371790188

Gene: VPS13B

Linked Data

• dbSNP Id: rs1816849677
• gnomAD v4: 8-99861779-C-A
• MyVariant Identifiers: chr8:g.100874007C>A (hg19) ; chr8:g.99861779C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861779C>A , CM000670.2:g.99861779C>A	GRCh38
NC_000008.10:g.100874007C>A , CM000670.1:g.100874007C>A	GRCh37
NC_000008.9:g.100943183C>A	NCBI36
NG_007098.2:g.853514C>A , LRG_351:g.853514C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*217C>A	ENSP00000507923.1:n.*217C>A
ENST00000682358.1:n.11193C>A
ENST00000683334.1:c.*6805C>A	ENSP00000507369.1:n.*6805C>A
ENST00000357162.7:c.11048C>A MANE Select	ENSP00000349685.2:p.Thr3683Asn
ENST00000358544.7:c.11123C>A MANE Plus Clinical	ENSP00000351346.2:p.Thr3708Asn
ENST00000357162.6:c.11048C>A	ENSP00000349685.2:p.Thr3683Asn
ENST00000358544.6:c.11123C>A	ENSP00000351346.2:p.Thr3708Asn
NM_017890.4:c.11123C>A , LRG_351t1:c.11123C>A	NP_060360.3:p.Thr3708Asn
NM_152564.4:c.11048C>A , LRG_351t2:c.11048C>A	NP_689777.3:p.Thr3683Asn
XM_005250800.2:c.11123C>A	XP_005250857.1:p.Thr3708Asn
XM_005250801.3:c.11123C>A	XP_005250858.1:p.Thr3708Asn
XM_011516848.1:c.11120C>A	XP_011515150.1:p.Thr3707Asn
XM_011516849.1:c.11045C>A	XP_011515151.1:p.Thr3682Asn
XM_011516850.1:c.10745C>A	XP_011515152.1:p.Thr3582Asn
XM_011516851.1:c.8009C>A	XP_011515153.1:p.Thr2670Asn
XM_011516852.1:c.8009C>A	XP_011515154.1:p.Thr2670Asn
XM_011516854.1:c.6902C>A	XP_011515156.1:p.Thr2301Asn
XM_005250800.3:c.11123C>A	XP_005250857.1:p.Thr3708Asn
XM_005250801.5:c.11123C>A	XP_005250858.1:p.Thr3708Asn
XM_011516848.2:c.11120C>A	XP_011515150.1:p.Thr3707Asn
XM_011516849.2:c.11045C>A	XP_011515151.1:p.Thr3682Asn
XM_011516850.2:c.10745C>A	XP_011515152.1:p.Thr3582Asn
XM_011516851.2:c.8009C>A	XP_011515153.1:p.Thr2670Asn
XM_011516852.2:c.8009C>A	XP_011515154.1:p.Thr2670Asn
XM_011516854.2:c.6902C>A	XP_011515156.1:p.Thr2301Asn
XM_017013109.1:c.10928C>A	XP_016868598.1:p.Thr3643Asn
XM_017013111.1:c.8009C>A	XP_016868600.1:p.Thr2670Asn
XM_017013112.1:c.6680C>A	XP_016868601.1:p.Thr2227Asn
XM_024447074.1:c.9908C>A	XP_024302842.1:p.Thr3303Asn
NM_017890.5:c.11123C>A MANE Plus Clinical	NP_060360.3:p.Thr3708Asn
NM_152564.5:c.11048C>A MANE Select	NP_689777.3:p.Thr3683Asn