Canonical Allele Identifier: CA371776008

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100831642A>T (hg19) ; chr8:g.99819414A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819414A>T , CM000670.2:g.99819414A>T	GRCh38
NC_000008.10:g.100831642A>T , CM000670.1:g.100831642A>T	GRCh37
NC_000008.9:g.100900818A>T	NCBI36
NG_007098.2:g.811149A>T , LRG_351:g.811149A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8699A>T	ENSP00000507923.1:p.Glu2900Val
ENST00000682358.1:n.8769A>T
ENST00000683334.1:c.*4381A>T	ENSP00000507369.1:n.*4381A>T
ENST00000357162.7:c.8624A>T MANE Select	ENSP00000349685.2:p.Glu2875Val
ENST00000358544.7:c.8699A>T MANE Plus Clinical	ENSP00000351346.2:p.Glu2900Val
ENST00000357162.6:c.8624A>T	ENSP00000349685.2:p.Glu2875Val
ENST00000358544.6:c.8699A>T	ENSP00000351346.2:p.Glu2900Val
NM_017890.4:c.8699A>T , LRG_351t1:c.8699A>T	NP_060360.3:p.Glu2900Val
NM_152564.4:c.8624A>T , LRG_351t2:c.8624A>T	NP_689777.3:p.Glu2875Val
XM_005250800.2:c.8699A>T	XP_005250857.1:p.Glu2900Val
XM_005250801.3:c.8699A>T	XP_005250858.1:p.Glu2900Val
XM_011516848.1:c.8696A>T	XP_011515150.1:p.Glu2899Val
XM_011516849.1:c.8621A>T	XP_011515151.1:p.Glu2874Val
XM_011516850.1:c.8321A>T	XP_011515152.1:p.Glu2774Val
XM_011516851.1:c.5585A>T	XP_011515153.1:p.Glu1862Val
XM_011516852.1:c.5585A>T	XP_011515154.1:p.Glu1862Val
XM_011516854.1:c.4478A>T	XP_011515156.1:p.Glu1493Val
XM_005250800.3:c.8699A>T	XP_005250857.1:p.Glu2900Val
XM_005250801.5:c.8699A>T	XP_005250858.1:p.Glu2900Val
XM_011516848.2:c.8696A>T	XP_011515150.1:p.Glu2899Val
XM_011516849.2:c.8621A>T	XP_011515151.1:p.Glu2874Val
XM_011516850.2:c.8321A>T	XP_011515152.1:p.Glu2774Val
XM_011516851.2:c.5585A>T	XP_011515153.1:p.Glu1862Val
XM_011516852.2:c.5585A>T	XP_011515154.1:p.Glu1862Val
XM_011516854.2:c.4478A>T	XP_011515156.1:p.Glu1493Val
XM_017013109.1:c.8504A>T	XP_016868598.1:p.Glu2835Val
XM_017013111.1:c.5585A>T	XP_016868600.1:p.Glu1862Val
XM_017013112.1:c.4256A>T	XP_016868601.1:p.Glu1419Val
XM_024447074.1:c.7484A>T	XP_024302842.1:p.Glu2495Val
NM_017890.5:c.8699A>T MANE Plus Clinical	NP_060360.3:p.Glu2900Val
NM_152564.5:c.8624A>T MANE Select	NP_689777.3:p.Glu2875Val