Canonical Allele Identifier: CA462449165

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1079991
• ClinVar RCV Id: RCV001395489
• dbSNP Id: rs2130668083
• MyVariant Identifiers: chr8:g.100789054A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776826A>G , CM000670.2:g.99776826A>G	GRCh38
NC_000008.10:g.100789054A>G , CM000670.1:g.100789054A>G	GRCh37
NC_000008.9:g.100858230A>G	NCBI36
NG_007098.2:g.768561A>G , LRG_351:g.768561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7374A>G	ENSP00000507923.1:p.Pro2458=
ENST00000682358.1:n.7444A>G
ENST00000683334.1:c.*3056A>G	ENSP00000507369.1:n.*3056A>G
ENST00000357162.7:c.7299A>G MANE Select	ENSP00000349685.2:p.Pro2433=
ENST00000358544.7:c.7374A>G MANE Plus Clinical	ENSP00000351346.2:p.Pro2458=
ENST00000357162.6:c.7299A>G	ENSP00000349685.2:p.Pro2433=
ENST00000358544.6:c.7374A>G	ENSP00000351346.2:p.Pro2458=
ENST00000518569.1:n.378-1856A>G
NM_017890.4:c.7374A>G , LRG_351t1:c.7374A>G	NP_060360.3:p.Pro2458=
NM_152564.4:c.7299A>G , LRG_351t2:c.7299A>G	NP_689777.3:p.Pro2433=
XM_005250800.2:c.7374A>G	XP_005250857.1:p.Pro2458=
XM_005250801.3:c.7374A>G	XP_005250858.1:p.Pro2458=
XM_011516848.1:c.7371A>G	XP_011515150.1:p.Pro2457=
XM_011516849.1:c.7296A>G	XP_011515151.1:p.Pro2432=
XM_011516850.1:c.6996A>G	XP_011515152.1:p.Pro2332=
XM_011516851.1:c.4260A>G	XP_011515153.1:p.Pro1420=
XM_011516852.1:c.4260A>G	XP_011515154.1:p.Pro1420=
XM_011516853.1:c.7374A>G	XP_011515155.1:p.Pro2458=
XM_011516854.1:c.3153A>G	XP_011515156.1:p.Pro1051=
XR_928446.1:n.1830+5652T>C
XM_005250800.3:c.7374A>G	XP_005250857.1:p.Pro2458=
XM_005250801.5:c.7374A>G	XP_005250858.1:p.Pro2458=
XM_011516848.2:c.7371A>G	XP_011515150.1:p.Pro2457=
XM_011516849.2:c.7296A>G	XP_011515151.1:p.Pro2432=
XM_011516850.2:c.6996A>G	XP_011515152.1:p.Pro2332=
XM_011516851.2:c.4260A>G	XP_011515153.1:p.Pro1420=
XM_011516852.2:c.4260A>G	XP_011515154.1:p.Pro1420=
XM_011516853.2:c.7374A>G	XP_011515155.1:p.Pro2458=
XM_011516854.2:c.3153A>G	XP_011515156.1:p.Pro1051=
XM_017013109.1:c.7179A>G	XP_016868598.1:p.Pro2393=
XM_017013111.1:c.4260A>G	XP_016868600.1:p.Pro1420=
XM_017013112.1:c.2931A>G	XP_016868601.1:p.Pro977=
XM_024447074.1:c.6159A>G	XP_024302842.1:p.Pro2053=
NM_017890.5:c.7374A>G MANE Plus Clinical	NP_060360.3:p.Pro2458=
NM_152564.5:c.7299A>G MANE Select	NP_689777.3:p.Pro2433=