Canonical Allele Identifier: CA371867907

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100732744C>A (hg19) ; chr8:g.99720516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99720516C>A , CM000670.2:g.99720516C>A	GRCh38
NC_000008.10:g.100732744C>A , CM000670.1:g.100732744C>A	GRCh37
NC_000008.9:g.100801920C>A	NCBI36
NG_007098.2:g.712251C>A , LRG_351:g.712251C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.6904C>A	ENSP00000507923.1:p.Leu2302Ile
ENST00000682358.1:n.6974C>A
ENST00000683334.1:c.*2586C>A	ENSP00000507369.1:n.*2586C>A
ENST00000357162.7:c.6829C>A MANE Select	ENSP00000349685.2:p.Leu2277Ile
ENST00000358544.7:c.6904C>A MANE Plus Clinical	ENSP00000351346.2:p.Leu2302Ile
ENST00000357162.6:c.6829C>A	ENSP00000349685.2:p.Leu2277Ile
ENST00000358544.6:c.6904C>A	ENSP00000351346.2:p.Leu2302Ile
NM_017890.4:c.6904C>A , LRG_351t1:c.6904C>A	NP_060360.3:p.Leu2302Ile
NM_152564.4:c.6829C>A , LRG_351t2:c.6829C>A	NP_689777.3:p.Leu2277Ile
XM_005250800.2:c.6904C>A	XP_005250857.1:p.Leu2302Ile
XM_005250801.3:c.6904C>A	XP_005250858.1:p.Leu2302Ile
XM_011516848.1:c.6901C>A	XP_011515150.1:p.Leu2301Ile
XM_011516849.1:c.6826C>A	XP_011515151.1:p.Leu2276Ile
XM_011516850.1:c.6526C>A	XP_011515152.1:p.Leu2176Ile
XM_011516851.1:c.3790C>A	XP_011515153.1:p.Leu1264Ile
XM_011516852.1:c.3790C>A	XP_011515154.1:p.Leu1264Ile
XM_011516853.1:c.6904C>A	XP_011515155.1:p.Leu2302Ile
XM_011516854.1:c.2683C>A	XP_011515156.1:p.Leu895Ile
XR_928446.1:n.2066-1303G>T
XM_005250800.3:c.6904C>A	XP_005250857.1:p.Leu2302Ile
XM_005250801.5:c.6904C>A	XP_005250858.1:p.Leu2302Ile
XM_011516848.2:c.6901C>A	XP_011515150.1:p.Leu2301Ile
XM_011516849.2:c.6826C>A	XP_011515151.1:p.Leu2276Ile
XM_011516850.2:c.6526C>A	XP_011515152.1:p.Leu2176Ile
XM_011516851.2:c.3790C>A	XP_011515153.1:p.Leu1264Ile
XM_011516852.2:c.3790C>A	XP_011515154.1:p.Leu1264Ile
XM_011516853.2:c.6904C>A	XP_011515155.1:p.Leu2302Ile
XM_011516854.2:c.2683C>A	XP_011515156.1:p.Leu895Ile
XM_017013109.1:c.6709C>A	XP_016868598.1:p.Leu2237Ile
XM_017013111.1:c.3790C>A	XP_016868600.1:p.Leu1264Ile
XM_017013112.1:c.2461C>A	XP_016868601.1:p.Leu821Ile
XM_024447074.1:c.5689C>A	XP_024302842.1:p.Leu1897Ile
NM_017890.5:c.6904C>A MANE Plus Clinical	NP_060360.3:p.Leu2302Ile
NM_152564.5:c.6829C>A MANE Select	NP_689777.3:p.Leu2277Ile