Canonical Allele Identifier: CA371785075

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100847961A>C (hg19) ; chr8:g.99835733A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835733A>C , CM000670.2:g.99835733A>C	GRCh38
NC_000008.10:g.100847961A>C , CM000670.1:g.100847961A>C	GRCh37
NC_000008.9:g.100917137A>C	NCBI36
NG_007098.2:g.827468A>C , LRG_351:g.827468A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10012A>C	ENSP00000507923.1:p.Thr3338Pro
ENST00000682358.1:n.10082A>C
ENST00000683334.1:c.*5694A>C	ENSP00000507369.1:n.*5694A>C
ENST00000357162.7:c.9937A>C MANE Select	ENSP00000349685.2:p.Thr3313Pro
ENST00000358544.7:c.10012A>C MANE Plus Clinical	ENSP00000351346.2:p.Thr3338Pro
ENST00000357162.6:c.9937A>C	ENSP00000349685.2:p.Thr3313Pro
ENST00000358544.6:c.10012A>C	ENSP00000351346.2:p.Thr3338Pro
NM_017890.4:c.10012A>C , LRG_351t1:c.10012A>C	NP_060360.3:p.Thr3338Pro
NM_152564.4:c.9937A>C , LRG_351t2:c.9937A>C	NP_689777.3:p.Thr3313Pro
XM_005250800.2:c.10012A>C	XP_005250857.1:p.Thr3338Pro
XM_005250801.3:c.10012A>C	XP_005250858.1:p.Thr3338Pro
XM_011516848.1:c.10009A>C	XP_011515150.1:p.Thr3337Pro
XM_011516849.1:c.9934A>C	XP_011515151.1:p.Thr3312Pro
XM_011516850.1:c.9634A>C	XP_011515152.1:p.Thr3212Pro
XM_011516851.1:c.6898A>C	XP_011515153.1:p.Thr2300Pro
XM_011516852.1:c.6898A>C	XP_011515154.1:p.Thr2300Pro
XM_011516854.1:c.5791A>C	XP_011515156.1:p.Thr1931Pro
XM_005250800.3:c.10012A>C	XP_005250857.1:p.Thr3338Pro
XM_005250801.5:c.10012A>C	XP_005250858.1:p.Thr3338Pro
XM_011516848.2:c.10009A>C	XP_011515150.1:p.Thr3337Pro
XM_011516849.2:c.9934A>C	XP_011515151.1:p.Thr3312Pro
XM_011516850.2:c.9634A>C	XP_011515152.1:p.Thr3212Pro
XM_011516851.2:c.6898A>C	XP_011515153.1:p.Thr2300Pro
XM_011516852.2:c.6898A>C	XP_011515154.1:p.Thr2300Pro
XM_011516854.2:c.5791A>C	XP_011515156.1:p.Thr1931Pro
XM_017013109.1:c.9817A>C	XP_016868598.1:p.Thr3273Pro
XM_017013111.1:c.6898A>C	XP_016868600.1:p.Thr2300Pro
XM_017013112.1:c.5569A>C	XP_016868601.1:p.Thr1857Pro
XM_024447074.1:c.8797A>C	XP_024302842.1:p.Thr2933Pro
NM_017890.5:c.10012A>C MANE Plus Clinical	NP_060360.3:p.Thr3338Pro
NM_152564.5:c.9937A>C MANE Select	NP_689777.3:p.Thr3313Pro