Canonical Allele Identifier: CA371790183

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2051685
• ClinVar RCV Id: RCV002927442
• dbSNP Id: rs1253597480
• gnomAD v2: 8-100874006-A-G
• gnomAD v3: 8-99861778-A-G
• gnomAD v4: 8-99861778-A-G
• MyVariant Identifiers: chr8:g.100874006A>G (hg19) ; chr8:g.99861778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861778A>G , CM000670.2:g.99861778A>G	GRCh38
NC_000008.10:g.100874006A>G , CM000670.1:g.100874006A>G	GRCh37
NC_000008.9:g.100943182A>G	NCBI36
NG_007098.2:g.853513A>G , LRG_351:g.853513A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*216A>G	ENSP00000507923.1:n.*216A>G
ENST00000682358.1:n.11192A>G
ENST00000683334.1:c.*6804A>G	ENSP00000507369.1:n.*6804A>G
ENST00000357162.7:c.11047A>G MANE Select	ENSP00000349685.2:p.Thr3683Ala
ENST00000358544.7:c.11122A>G MANE Plus Clinical	ENSP00000351346.2:p.Thr3708Ala
ENST00000357162.6:c.11047A>G	ENSP00000349685.2:p.Thr3683Ala
ENST00000358544.6:c.11122A>G	ENSP00000351346.2:p.Thr3708Ala
NM_017890.4:c.11122A>G , LRG_351t1:c.11122A>G	NP_060360.3:p.Thr3708Ala
NM_152564.4:c.11047A>G , LRG_351t2:c.11047A>G	NP_689777.3:p.Thr3683Ala
XM_005250800.2:c.11122A>G	XP_005250857.1:p.Thr3708Ala
XM_005250801.3:c.11122A>G	XP_005250858.1:p.Thr3708Ala
XM_011516848.1:c.11119A>G	XP_011515150.1:p.Thr3707Ala
XM_011516849.1:c.11044A>G	XP_011515151.1:p.Thr3682Ala
XM_011516850.1:c.10744A>G	XP_011515152.1:p.Thr3582Ala
XM_011516851.1:c.8008A>G	XP_011515153.1:p.Thr2670Ala
XM_011516852.1:c.8008A>G	XP_011515154.1:p.Thr2670Ala
XM_011516854.1:c.6901A>G	XP_011515156.1:p.Thr2301Ala
XM_005250800.3:c.11122A>G	XP_005250857.1:p.Thr3708Ala
XM_005250801.5:c.11122A>G	XP_005250858.1:p.Thr3708Ala
XM_011516848.2:c.11119A>G	XP_011515150.1:p.Thr3707Ala
XM_011516849.2:c.11044A>G	XP_011515151.1:p.Thr3682Ala
XM_011516850.2:c.10744A>G	XP_011515152.1:p.Thr3582Ala
XM_011516851.2:c.8008A>G	XP_011515153.1:p.Thr2670Ala
XM_011516852.2:c.8008A>G	XP_011515154.1:p.Thr2670Ala
XM_011516854.2:c.6901A>G	XP_011515156.1:p.Thr2301Ala
XM_017013109.1:c.10927A>G	XP_016868598.1:p.Thr3643Ala
XM_017013111.1:c.8008A>G	XP_016868600.1:p.Thr2670Ala
XM_017013112.1:c.6679A>G	XP_016868601.1:p.Thr2227Ala
XM_024447074.1:c.9907A>G	XP_024302842.1:p.Thr3303Ala
NM_017890.5:c.11122A>G MANE Plus Clinical	NP_060360.3:p.Thr3708Ala
NM_152564.5:c.11047A>G MANE Select	NP_689777.3:p.Thr3683Ala