Canonical Allele Identifier: CA371875705

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789085T>G (hg19) ; chr8:g.99776857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776857T>G , CM000670.2:g.99776857T>G	GRCh38
NC_000008.10:g.100789085T>G , CM000670.1:g.100789085T>G	GRCh37
NC_000008.9:g.100858261T>G	NCBI36
NG_007098.2:g.768592T>G , LRG_351:g.768592T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7405T>G	ENSP00000507923.1:p.Ser2469Ala
ENST00000682358.1:n.7475T>G
ENST00000683334.1:c.*3087T>G	ENSP00000507369.1:n.*3087T>G
ENST00000357162.7:c.7330T>G MANE Select	ENSP00000349685.2:p.Ser2444Ala
ENST00000358544.7:c.7405T>G MANE Plus Clinical	ENSP00000351346.2:p.Ser2469Ala
ENST00000357162.6:c.7330T>G	ENSP00000349685.2:p.Ser2444Ala
ENST00000358544.6:c.7405T>G	ENSP00000351346.2:p.Ser2469Ala
ENST00000518569.1:n.378-1825T>G
NM_017890.4:c.7405T>G , LRG_351t1:c.7405T>G	NP_060360.3:p.Ser2469Ala
NM_152564.4:c.7330T>G , LRG_351t2:c.7330T>G	NP_689777.3:p.Ser2444Ala
XM_005250800.2:c.7405T>G	XP_005250857.1:p.Ser2469Ala
XM_005250801.3:c.7405T>G	XP_005250858.1:p.Ser2469Ala
XM_011516848.1:c.7402T>G	XP_011515150.1:p.Ser2468Ala
XM_011516849.1:c.7327T>G	XP_011515151.1:p.Ser2443Ala
XM_011516850.1:c.7027T>G	XP_011515152.1:p.Ser2343Ala
XM_011516851.1:c.4291T>G	XP_011515153.1:p.Ser1431Ala
XM_011516852.1:c.4291T>G	XP_011515154.1:p.Ser1431Ala
XM_011516853.1:c.7405T>G	XP_011515155.1:p.Ser2469Ala
XM_011516854.1:c.3184T>G	XP_011515156.1:p.Ser1062Ala
XR_928446.1:n.1830+5621A>C
XM_005250800.3:c.7405T>G	XP_005250857.1:p.Ser2469Ala
XM_005250801.5:c.7405T>G	XP_005250858.1:p.Ser2469Ala
XM_011516848.2:c.7402T>G	XP_011515150.1:p.Ser2468Ala
XM_011516849.2:c.7327T>G	XP_011515151.1:p.Ser2443Ala
XM_011516850.2:c.7027T>G	XP_011515152.1:p.Ser2343Ala
XM_011516851.2:c.4291T>G	XP_011515153.1:p.Ser1431Ala
XM_011516852.2:c.4291T>G	XP_011515154.1:p.Ser1431Ala
XM_011516853.2:c.7405T>G	XP_011515155.1:p.Ser2469Ala
XM_011516854.2:c.3184T>G	XP_011515156.1:p.Ser1062Ala
XM_017013109.1:c.7210T>G	XP_016868598.1:p.Ser2404Ala
XM_017013111.1:c.4291T>G	XP_016868600.1:p.Ser1431Ala
XM_017013112.1:c.2962T>G	XP_016868601.1:p.Ser988Ala
XM_024447074.1:c.6190T>G	XP_024302842.1:p.Ser2064Ala
NM_017890.5:c.7405T>G MANE Plus Clinical	NP_060360.3:p.Ser2469Ala
NM_152564.5:c.7330T>G MANE Select	NP_689777.3:p.Ser2444Ala