Canonical Allele Identifier: CA371875703

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789084C>G (hg19) ; chr8:g.99776856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776856C>G , CM000670.2:g.99776856C>G	GRCh38
NC_000008.10:g.100789084C>G , CM000670.1:g.100789084C>G	GRCh37
NC_000008.9:g.100858260C>G	NCBI36
NG_007098.2:g.768591C>G , LRG_351:g.768591C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7404C>G	ENSP00000507923.1:p.Asp2468Glu
ENST00000682358.1:n.7474C>G
ENST00000683334.1:c.*3086C>G	ENSP00000507369.1:n.*3086C>G
ENST00000357162.7:c.7329C>G MANE Select	ENSP00000349685.2:p.Asp2443Glu
ENST00000358544.7:c.7404C>G MANE Plus Clinical	ENSP00000351346.2:p.Asp2468Glu
ENST00000357162.6:c.7329C>G	ENSP00000349685.2:p.Asp2443Glu
ENST00000358544.6:c.7404C>G	ENSP00000351346.2:p.Asp2468Glu
ENST00000518569.1:n.378-1826C>G
NM_017890.4:c.7404C>G , LRG_351t1:c.7404C>G	NP_060360.3:p.Asp2468Glu
NM_152564.4:c.7329C>G , LRG_351t2:c.7329C>G	NP_689777.3:p.Asp2443Glu
XM_005250800.2:c.7404C>G	XP_005250857.1:p.Asp2468Glu
XM_005250801.3:c.7404C>G	XP_005250858.1:p.Asp2468Glu
XM_011516848.1:c.7401C>G	XP_011515150.1:p.Asp2467Glu
XM_011516849.1:c.7326C>G	XP_011515151.1:p.Asp2442Glu
XM_011516850.1:c.7026C>G	XP_011515152.1:p.Asp2342Glu
XM_011516851.1:c.4290C>G	XP_011515153.1:p.Asp1430Glu
XM_011516852.1:c.4290C>G	XP_011515154.1:p.Asp1430Glu
XM_011516853.1:c.7404C>G	XP_011515155.1:p.Asp2468Glu
XM_011516854.1:c.3183C>G	XP_011515156.1:p.Asp1061Glu
XR_928446.1:n.1830+5622G>C
XM_005250800.3:c.7404C>G	XP_005250857.1:p.Asp2468Glu
XM_005250801.5:c.7404C>G	XP_005250858.1:p.Asp2468Glu
XM_011516848.2:c.7401C>G	XP_011515150.1:p.Asp2467Glu
XM_011516849.2:c.7326C>G	XP_011515151.1:p.Asp2442Glu
XM_011516850.2:c.7026C>G	XP_011515152.1:p.Asp2342Glu
XM_011516851.2:c.4290C>G	XP_011515153.1:p.Asp1430Glu
XM_011516852.2:c.4290C>G	XP_011515154.1:p.Asp1430Glu
XM_011516853.2:c.7404C>G	XP_011515155.1:p.Asp2468Glu
XM_011516854.2:c.3183C>G	XP_011515156.1:p.Asp1061Glu
XM_017013109.1:c.7209C>G	XP_016868598.1:p.Asp2403Glu
XM_017013111.1:c.4290C>G	XP_016868600.1:p.Asp1430Glu
XM_017013112.1:c.2961C>G	XP_016868601.1:p.Asp987Glu
XM_024447074.1:c.6189C>G	XP_024302842.1:p.Asp2063Glu
NM_017890.5:c.7404C>G MANE Plus Clinical	NP_060360.3:p.Asp2468Glu
NM_152564.5:c.7329C>G MANE Select	NP_689777.3:p.Asp2443Glu