Canonical Allele Identifier: CA462448995

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100779142T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766914T>A , CM000670.2:g.99766914T>A	GRCh38
NC_000008.10:g.100779142T>A , CM000670.1:g.100779142T>A	GRCh37
NC_000008.9:g.100848318T>A	NCBI36
NG_007098.2:g.758649T>A , LRG_351:g.758649T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7266T>A	ENSP00000507923.1:p.Ser2422=
ENST00000682358.1:n.7336T>A
ENST00000683334.1:c.*2948T>A	ENSP00000507369.1:n.*2948T>A
ENST00000357162.7:c.7191T>A MANE Select	ENSP00000349685.2:p.Ser2397=
ENST00000358544.7:c.7266T>A MANE Plus Clinical	ENSP00000351346.2:p.Ser2422=
ENST00000357162.6:c.7191T>A	ENSP00000349685.2:p.Ser2397=
ENST00000358544.6:c.7266T>A	ENSP00000351346.2:p.Ser2422=
ENST00000518569.1:n.321T>A
NM_017890.4:c.7266T>A , LRG_351t1:c.7266T>A	NP_060360.3:p.Ser2422=
NM_152564.4:c.7191T>A , LRG_351t2:c.7191T>A	NP_689777.3:p.Ser2397=
XM_005250800.2:c.7266T>A	XP_005250857.1:p.Ser2422=
XM_005250801.3:c.7266T>A	XP_005250858.1:p.Ser2422=
XM_011516848.1:c.7263T>A	XP_011515150.1:p.Ser2421=
XM_011516849.1:c.7188T>A	XP_011515151.1:p.Ser2396=
XM_011516850.1:c.6888T>A	XP_011515152.1:p.Ser2296=
XM_011516851.1:c.4152T>A	XP_011515153.1:p.Ser1384=
XM_011516852.1:c.4152T>A	XP_011515154.1:p.Ser1384=
XM_011516853.1:c.7266T>A	XP_011515155.1:p.Ser2422=
XM_011516854.1:c.3045T>A	XP_011515156.1:p.Ser1015=
XR_928446.1:n.2065+3774A>T
XM_005250800.3:c.7266T>A	XP_005250857.1:p.Ser2422=
XM_005250801.5:c.7266T>A	XP_005250858.1:p.Ser2422=
XM_011516848.2:c.7263T>A	XP_011515150.1:p.Ser2421=
XM_011516849.2:c.7188T>A	XP_011515151.1:p.Ser2396=
XM_011516850.2:c.6888T>A	XP_011515152.1:p.Ser2296=
XM_011516851.2:c.4152T>A	XP_011515153.1:p.Ser1384=
XM_011516852.2:c.4152T>A	XP_011515154.1:p.Ser1384=
XM_011516853.2:c.7266T>A	XP_011515155.1:p.Ser2422=
XM_011516854.2:c.3045T>A	XP_011515156.1:p.Ser1015=
XM_017013109.1:c.7071T>A	XP_016868598.1:p.Ser2357=
XM_017013111.1:c.4152T>A	XP_016868600.1:p.Ser1384=
XM_017013112.1:c.2823T>A	XP_016868601.1:p.Ser941=
XM_024447074.1:c.6051T>A	XP_024302842.1:p.Ser2017=
NM_017890.5:c.7266T>A MANE Plus Clinical	NP_060360.3:p.Ser2422=
NM_152564.5:c.7191T>A MANE Select	NP_689777.3:p.Ser2397=