Canonical Allele Identifier: CA371867434

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729566A>G (hg19) ; chr8:g.99717338A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717338A>G , CM000670.2:g.99717338A>G	GRCh38
NC_000008.10:g.100729566A>G , CM000670.1:g.100729566A>G	GRCh37
NC_000008.9:g.100798742A>G	NCBI36
NG_007098.2:g.709073A>G , LRG_351:g.709073A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6697A>G	ENSP00000507923.1:p.Lys2233Glu
ENST00000682358.1:n.6767A>G
ENST00000683334.1:c.*2379A>G	ENSP00000507369.1:n.*2379A>G
ENST00000357162.7:c.6622A>G MANE Select	ENSP00000349685.2:p.Lys2208Glu
ENST00000358544.7:c.6697A>G MANE Plus Clinical	ENSP00000351346.2:p.Lys2233Glu
ENST00000357162.6:c.6622A>G	ENSP00000349685.2:p.Lys2208Glu
ENST00000358544.6:c.6697A>G	ENSP00000351346.2:p.Lys2233Glu
NM_017890.4:c.6697A>G , LRG_351t1:c.6697A>G	NP_060360.3:p.Lys2233Glu
NM_152564.4:c.6622A>G , LRG_351t2:c.6622A>G	NP_689777.3:p.Lys2208Glu
XM_005250800.2:c.6697A>G	XP_005250857.1:p.Lys2233Glu
XM_005250801.3:c.6697A>G	XP_005250858.1:p.Lys2233Glu
XM_011516848.1:c.6694A>G	XP_011515150.1:p.Lys2232Glu
XM_011516849.1:c.6619A>G	XP_011515151.1:p.Lys2207Glu
XM_011516850.1:c.6319A>G	XP_011515152.1:p.Lys2107Glu
XM_011516851.1:c.3583A>G	XP_011515153.1:p.Lys1195Glu
XM_011516852.1:c.3583A>G	XP_011515154.1:p.Lys1195Glu
XM_011516853.1:c.6697A>G	XP_011515155.1:p.Lys2233Glu
XM_011516854.1:c.2476A>G	XP_011515156.1:p.Lys826Glu
XM_005250800.3:c.6697A>G	XP_005250857.1:p.Lys2233Glu
XM_005250801.5:c.6697A>G	XP_005250858.1:p.Lys2233Glu
XM_011516848.2:c.6694A>G	XP_011515150.1:p.Lys2232Glu
XM_011516849.2:c.6619A>G	XP_011515151.1:p.Lys2207Glu
XM_011516850.2:c.6319A>G	XP_011515152.1:p.Lys2107Glu
XM_011516851.2:c.3583A>G	XP_011515153.1:p.Lys1195Glu
XM_011516852.2:c.3583A>G	XP_011515154.1:p.Lys1195Glu
XM_011516853.2:c.6697A>G	XP_011515155.1:p.Lys2233Glu
XM_011516854.2:c.2476A>G	XP_011515156.1:p.Lys826Glu
XM_017013109.1:c.6502A>G	XP_016868598.1:p.Lys2168Glu
XM_017013111.1:c.3583A>G	XP_016868600.1:p.Lys1195Glu
XM_017013112.1:c.2254A>G	XP_016868601.1:p.Lys752Glu
XM_024447074.1:c.5482A>G	XP_024302842.1:p.Lys1828Glu
NM_017890.5:c.6697A>G MANE Plus Clinical	NP_060360.3:p.Lys2233Glu
NM_152564.5:c.6622A>G MANE Select	NP_689777.3:p.Lys2208Glu