Canonical Allele Identifier: CA371790211

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100874013C>A (hg19) ; chr8:g.99861785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861785C>A , CM000670.2:g.99861785C>A	GRCh38
NC_000008.10:g.100874013C>A , CM000670.1:g.100874013C>A	GRCh37
NC_000008.9:g.100943189C>A	NCBI36
NG_007098.2:g.853520C>A , LRG_351:g.853520C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*223C>A	ENSP00000507923.1:n.*223C>A
ENST00000682358.1:n.11199C>A
ENST00000683334.1:c.*6811C>A	ENSP00000507369.1:n.*6811C>A
ENST00000357162.7:c.11054C>A MANE Select	ENSP00000349685.2:p.Thr3685Lys
ENST00000358544.7:c.11129C>A MANE Plus Clinical	ENSP00000351346.2:p.Thr3710Lys
ENST00000357162.6:c.11054C>A	ENSP00000349685.2:p.Thr3685Lys
ENST00000358544.6:c.11129C>A	ENSP00000351346.2:p.Thr3710Lys
NM_017890.4:c.11129C>A , LRG_351t1:c.11129C>A	NP_060360.3:p.Thr3710Lys
NM_152564.4:c.11054C>A , LRG_351t2:c.11054C>A	NP_689777.3:p.Thr3685Lys
XM_005250800.2:c.11129C>A	XP_005250857.1:p.Thr3710Lys
XM_005250801.3:c.11129C>A	XP_005250858.1:p.Thr3710Lys
XM_011516848.1:c.11126C>A	XP_011515150.1:p.Thr3709Lys
XM_011516849.1:c.11051C>A	XP_011515151.1:p.Thr3684Lys
XM_011516850.1:c.10751C>A	XP_011515152.1:p.Thr3584Lys
XM_011516851.1:c.8015C>A	XP_011515153.1:p.Thr2672Lys
XM_011516852.1:c.8015C>A	XP_011515154.1:p.Thr2672Lys
XM_011516854.1:c.6908C>A	XP_011515156.1:p.Thr2303Lys
XM_005250800.3:c.11129C>A	XP_005250857.1:p.Thr3710Lys
XM_005250801.5:c.11129C>A	XP_005250858.1:p.Thr3710Lys
XM_011516848.2:c.11126C>A	XP_011515150.1:p.Thr3709Lys
XM_011516849.2:c.11051C>A	XP_011515151.1:p.Thr3684Lys
XM_011516850.2:c.10751C>A	XP_011515152.1:p.Thr3584Lys
XM_011516851.2:c.8015C>A	XP_011515153.1:p.Thr2672Lys
XM_011516852.2:c.8015C>A	XP_011515154.1:p.Thr2672Lys
XM_011516854.2:c.6908C>A	XP_011515156.1:p.Thr2303Lys
XM_017013109.1:c.10934C>A	XP_016868598.1:p.Thr3645Lys
XM_017013111.1:c.8015C>A	XP_016868600.1:p.Thr2672Lys
XM_017013112.1:c.6686C>A	XP_016868601.1:p.Thr2229Lys
XM_024447074.1:c.9914C>A	XP_024302842.1:p.Thr3305Lys
NM_017890.5:c.11129C>A MANE Plus Clinical	NP_060360.3:p.Thr3710Lys
NM_152564.5:c.11054C>A MANE Select	NP_689777.3:p.Thr3685Lys