Canonical Allele Identifier: CA371784745

Gene: VPS13B

Linked Data

• dbSNP Id: rs1815354846
• gnomAD v4: 8-99835700-T-G
• MyVariant Identifiers: chr8:g.100847928T>G (hg19) ; chr8:g.99835700T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835700T>G , CM000670.2:g.99835700T>G	GRCh38
NC_000008.10:g.100847928T>G , CM000670.1:g.100847928T>G	GRCh37
NC_000008.9:g.100917104T>G	NCBI36
NG_007098.2:g.827435T>G , LRG_351:g.827435T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9979T>G	ENSP00000507923.1:p.Trp3327Gly
ENST00000682358.1:n.10049T>G
ENST00000683334.1:c.*5661T>G	ENSP00000507369.1:n.*5661T>G
ENST00000357162.7:c.9904T>G MANE Select	ENSP00000349685.2:p.Trp3302Gly
ENST00000358544.7:c.9979T>G MANE Plus Clinical	ENSP00000351346.2:p.Trp3327Gly
ENST00000357162.6:c.9904T>G	ENSP00000349685.2:p.Trp3302Gly
ENST00000358544.6:c.9979T>G	ENSP00000351346.2:p.Trp3327Gly
NM_017890.4:c.9979T>G , LRG_351t1:c.9979T>G	NP_060360.3:p.Trp3327Gly
NM_152564.4:c.9904T>G , LRG_351t2:c.9904T>G	NP_689777.3:p.Trp3302Gly
XM_005250800.2:c.9979T>G	XP_005250857.1:p.Trp3327Gly
XM_005250801.3:c.9979T>G	XP_005250858.1:p.Trp3327Gly
XM_011516848.1:c.9976T>G	XP_011515150.1:p.Trp3326Gly
XM_011516849.1:c.9901T>G	XP_011515151.1:p.Trp3301Gly
XM_011516850.1:c.9601T>G	XP_011515152.1:p.Trp3201Gly
XM_011516851.1:c.6865T>G	XP_011515153.1:p.Trp2289Gly
XM_011516852.1:c.6865T>G	XP_011515154.1:p.Trp2289Gly
XM_011516854.1:c.5758T>G	XP_011515156.1:p.Trp1920Gly
XM_005250800.3:c.9979T>G	XP_005250857.1:p.Trp3327Gly
XM_005250801.5:c.9979T>G	XP_005250858.1:p.Trp3327Gly
XM_011516848.2:c.9976T>G	XP_011515150.1:p.Trp3326Gly
XM_011516849.2:c.9901T>G	XP_011515151.1:p.Trp3301Gly
XM_011516850.2:c.9601T>G	XP_011515152.1:p.Trp3201Gly
XM_011516851.2:c.6865T>G	XP_011515153.1:p.Trp2289Gly
XM_011516852.2:c.6865T>G	XP_011515154.1:p.Trp2289Gly
XM_011516854.2:c.5758T>G	XP_011515156.1:p.Trp1920Gly
XM_017013109.1:c.9784T>G	XP_016868598.1:p.Trp3262Gly
XM_017013111.1:c.6865T>G	XP_016868600.1:p.Trp2289Gly
XM_017013112.1:c.5536T>G	XP_016868601.1:p.Trp1846Gly
XM_024447074.1:c.8764T>G	XP_024302842.1:p.Trp2922Gly
NM_017890.5:c.9979T>G MANE Plus Clinical	NP_060360.3:p.Trp3327Gly
NM_152564.5:c.9904T>G MANE Select	NP_689777.3:p.Trp3302Gly