Canonical Allele Identifier: CA371868871

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99661404C>T , CM000670.2:g.99661404C>T	GRCh38
NC_000008.10:g.100673632C>T , CM000670.1:g.100673632C>T	GRCh37
NC_000008.9:g.100742808C>T	NCBI36
NG_007098.2:g.653139C>T , LRG_351:g.653139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6034C>T	ENSP00000507923.1:p.Gln2012Ter
ENST00000682358.1:n.6104C>T
ENST00000683334.1:c.*1716C>T	ENSP00000507369.1:n.*1716C>T
ENST00000357162.7:c.5959C>T MANE Select	ENSP00000349685.2:p.Gln1987Ter
ENST00000358544.7:c.6034C>T MANE Plus Clinical	ENSP00000351346.2:p.Gln2012Ter
ENST00000357162.6:c.5959C>T	ENSP00000349685.2:p.Gln1987Ter
ENST00000358544.6:c.6034C>T	ENSP00000351346.2:p.Gln2012Ter
NM_017890.4:c.6034C>T , LRG_351t1:c.6034C>T	NP_060360.3:p.Gln2012Ter
NM_152564.4:c.5959C>T , LRG_351t2:c.5959C>T	NP_689777.3:p.Gln1987Ter
XM_005250800.2:c.6034C>T	XP_005250857.1:p.Gln2012Ter
XM_005250801.3:c.6034C>T	XP_005250858.1:p.Gln2012Ter
XM_011516848.1:c.6031C>T	XP_011515150.1:p.Gln2011Ter
XM_011516849.1:c.5956C>T	XP_011515151.1:p.Gln1986Ter
XM_011516850.1:c.5656C>T	XP_011515152.1:p.Gln1886Ter
XM_011516851.1:c.2920C>T	XP_011515153.1:p.Gln974Ter
XM_011516852.1:c.2920C>T	XP_011515154.1:p.Gln974Ter
XM_011516853.1:c.6034C>T	XP_011515155.1:p.Gln2012Ter
XM_011516854.1:c.1813C>T	XP_011515156.1:p.Gln605Ter
XR_928447.1:n.215-5692G>A
XM_005250800.3:c.6034C>T	XP_005250857.1:p.Gln2012Ter
XM_005250801.5:c.6034C>T	XP_005250858.1:p.Gln2012Ter
XM_011516848.2:c.6031C>T	XP_011515150.1:p.Gln2011Ter
XM_011516849.2:c.5956C>T	XP_011515151.1:p.Gln1986Ter
XM_011516850.2:c.5656C>T	XP_011515152.1:p.Gln1886Ter
XM_011516851.2:c.2920C>T	XP_011515153.1:p.Gln974Ter
XM_011516852.2:c.2920C>T	XP_011515154.1:p.Gln974Ter
XM_011516853.2:c.6034C>T	XP_011515155.1:p.Gln2012Ter
XM_011516854.2:c.1813C>T	XP_011515156.1:p.Gln605Ter
XM_017013109.1:c.5839C>T	XP_016868598.1:p.Gln1947Ter
XM_017013111.1:c.2920C>T	XP_016868600.1:p.Gln974Ter
XM_017013112.1:c.1591C>T	XP_016868601.1:p.Gln531Ter
XM_024447074.1:c.4819C>T	XP_024302842.1:p.Gln1607Ter
XR_001745482.2:n.5995C>T
NM_017890.5:c.6034C>T MANE Plus Clinical	NP_060360.3:p.Gln2012Ter
NM_152564.5:c.5959C>T MANE Select	NP_689777.3:p.Gln1987Ter