Canonical Allele Identifier: CA371872652

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99642073-G-T
• COSMIC: COSM748176 ; COSM748177
• MyVariant Identifiers: chr8:g.100654301G>T (hg19) ; chr8:g.99642073G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642073G>T , CM000670.2:g.99642073G>T	GRCh38
NC_000008.10:g.100654301G>T , CM000670.1:g.100654301G>T	GRCh37
NC_000008.9:g.100723477G>T	NCBI36
NG_007098.2:g.633808G>T , LRG_351:g.633808G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5558G>T	ENSP00000507923.1:p.Cys1853Phe
ENST00000682358.1:n.5628G>T
ENST00000683334.1:c.*1240G>T	ENSP00000507369.1:n.*1240G>T
ENST00000357162.7:c.5483G>T MANE Select	ENSP00000349685.2:p.Cys1828Phe
ENST00000358544.7:c.5558G>T MANE Plus Clinical	ENSP00000351346.2:p.Cys1853Phe
ENST00000357162.6:c.5483G>T	ENSP00000349685.2:p.Cys1828Phe
ENST00000358544.6:c.5558G>T	ENSP00000351346.2:p.Cys1853Phe
NM_017890.4:c.5558G>T , LRG_351t1:c.5558G>T	NP_060360.3:p.Cys1853Phe
NM_152564.4:c.5483G>T , LRG_351t2:c.5483G>T	NP_689777.3:p.Cys1828Phe
XM_005250800.2:c.5558G>T	XP_005250857.1:p.Cys1853Phe
XM_005250801.3:c.5558G>T	XP_005250858.1:p.Cys1853Phe
XM_011516848.1:c.5555G>T	XP_011515150.1:p.Cys1852Phe
XM_011516849.1:c.5480G>T	XP_011515151.1:p.Cys1827Phe
XM_011516850.1:c.5180G>T	XP_011515152.1:p.Cys1727Phe
XM_011516851.1:c.2444G>T	XP_011515153.1:p.Cys815Phe
XM_011516852.1:c.2444G>T	XP_011515154.1:p.Cys815Phe
XM_011516853.1:c.5558G>T	XP_011515155.1:p.Cys1853Phe
XM_011516854.1:c.1337G>T	XP_011515156.1:p.Cys446Phe
XM_005250800.3:c.5558G>T	XP_005250857.1:p.Cys1853Phe
XM_005250801.5:c.5558G>T	XP_005250858.1:p.Cys1853Phe
XM_011516848.2:c.5555G>T	XP_011515150.1:p.Cys1852Phe
XM_011516849.2:c.5480G>T	XP_011515151.1:p.Cys1827Phe
XM_011516850.2:c.5180G>T	XP_011515152.1:p.Cys1727Phe
XM_011516851.2:c.2444G>T	XP_011515153.1:p.Cys815Phe
XM_011516852.2:c.2444G>T	XP_011515154.1:p.Cys815Phe
XM_011516853.2:c.5558G>T	XP_011515155.1:p.Cys1853Phe
XM_011516854.2:c.1337G>T	XP_011515156.1:p.Cys446Phe
XM_017013109.1:c.5363G>T	XP_016868598.1:p.Cys1788Phe
XM_017013111.1:c.2444G>T	XP_016868600.1:p.Cys815Phe
XM_017013112.1:c.1115G>T	XP_016868601.1:p.Cys372Phe
XM_024447074.1:c.4343G>T	XP_024302842.1:p.Cys1448Phe
XR_001745482.2:n.5519G>T
NM_017890.5:c.5558G>T MANE Plus Clinical	NP_060360.3:p.Cys1853Phe
NM_152564.5:c.5483G>T MANE Select	NP_689777.3:p.Cys1828Phe