Canonical Allele Identifier: CA371792205

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2082008
• ClinVar RCV Id: RCV002995767
• MyVariant Identifiers: chr8:g.100880637G>C (hg19) ; chr8:g.99868409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868409G>C , CM000670.2:g.99868409G>C	GRCh38
NC_000008.10:g.100880637G>C , CM000670.1:g.100880637G>C	GRCh37
NC_000008.9:g.100949813G>C	NCBI36
NG_007098.2:g.860144G>C , LRG_351:g.860144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*505G>C	ENSP00000507923.1:n.*505G>C
ENST00000682358.1:n.11481G>C
ENST00000683334.1:c.*7093G>C	ENSP00000507369.1:n.*7093G>C
ENST00000357162.7:c.11336G>C MANE Select	ENSP00000349685.2:p.Gly3779Ala
ENST00000358544.7:c.11411G>C MANE Plus Clinical	ENSP00000351346.2:p.Gly3804Ala
ENST00000357162.6:c.11336G>C	ENSP00000349685.2:p.Gly3779Ala
ENST00000358544.6:c.11411G>C	ENSP00000351346.2:p.Gly3804Ala
ENST00000493587.1:n.353G>C
NM_017890.4:c.11411G>C , LRG_351t1:c.11411G>C	NP_060360.3:p.Gly3804Ala
NM_152564.4:c.11336G>C , LRG_351t2:c.11336G>C	NP_689777.3:p.Gly3779Ala
XM_005250800.2:c.11411G>C	XP_005250857.1:p.Gly3804Ala
XM_005250801.3:c.11411G>C	XP_005250858.1:p.Gly3804Ala
XM_011516848.1:c.11408G>C	XP_011515150.1:p.Gly3803Ala
XM_011516849.1:c.11333G>C	XP_011515151.1:p.Gly3778Ala
XM_011516850.1:c.11033G>C	XP_011515152.1:p.Gly3678Ala
XM_011516851.1:c.8297G>C	XP_011515153.1:p.Gly2766Ala
XM_011516852.1:c.8297G>C	XP_011515154.1:p.Gly2766Ala
XM_011516854.1:c.7190G>C	XP_011515156.1:p.Gly2397Ala
XM_005250800.3:c.11411G>C	XP_005250857.1:p.Gly3804Ala
XM_005250801.5:c.11411G>C	XP_005250858.1:p.Gly3804Ala
XM_011516848.2:c.11408G>C	XP_011515150.1:p.Gly3803Ala
XM_011516849.2:c.11333G>C	XP_011515151.1:p.Gly3778Ala
XM_011516850.2:c.11033G>C	XP_011515152.1:p.Gly3678Ala
XM_011516851.2:c.8297G>C	XP_011515153.1:p.Gly2766Ala
XM_011516852.2:c.8297G>C	XP_011515154.1:p.Gly2766Ala
XM_011516854.2:c.7190G>C	XP_011515156.1:p.Gly2397Ala
XM_017013109.1:c.11216G>C	XP_016868598.1:p.Gly3739Ala
XM_017013111.1:c.8297G>C	XP_016868600.1:p.Gly2766Ala
XM_017013112.1:c.6968G>C	XP_016868601.1:p.Gly2323Ala
XM_024447074.1:c.10196G>C	XP_024302842.1:p.Gly3399Ala
NM_017890.5:c.11411G>C MANE Plus Clinical	NP_060360.3:p.Gly3804Ala
NM_152564.5:c.11336G>C MANE Select	NP_689777.3:p.Gly3779Ala