Canonical Allele Identifier: CA462458173

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100866000T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99853772T>C , CM000670.2:g.99853772T>C	GRCh38
NC_000008.10:g.100866000T>C , CM000670.1:g.100866000T>C	GRCh37
NC_000008.9:g.100935176T>C	NCBI36
NG_007098.2:g.845507T>C , LRG_351:g.845507T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10458T>C	ENSP00000507923.1:p.Ser3486=
ENST00000682358.1:n.10528T>C
ENST00000683334.1:c.*6140T>C	ENSP00000507369.1:n.*6140T>C
ENST00000357162.7:c.10383T>C MANE Select	ENSP00000349685.2:p.Ser3461=
ENST00000358544.7:c.10458T>C MANE Plus Clinical	ENSP00000351346.2:p.Ser3486=
ENST00000357162.6:c.10383T>C	ENSP00000349685.2:p.Ser3461=
ENST00000358544.6:c.10458T>C	ENSP00000351346.2:p.Ser3486=
NM_017890.4:c.10458T>C , LRG_351t1:c.10458T>C	NP_060360.3:p.Ser3486=
NM_152564.4:c.10383T>C , LRG_351t2:c.10383T>C	NP_689777.3:p.Ser3461=
XM_005250800.2:c.10458T>C	XP_005250857.1:p.Ser3486=
XM_005250801.3:c.10458T>C	XP_005250858.1:p.Ser3486=
XM_011516848.1:c.10455T>C	XP_011515150.1:p.Ser3485=
XM_011516849.1:c.10380T>C	XP_011515151.1:p.Ser3460=
XM_011516850.1:c.10080T>C	XP_011515152.1:p.Ser3360=
XM_011516851.1:c.7344T>C	XP_011515153.1:p.Ser2448=
XM_011516852.1:c.7344T>C	XP_011515154.1:p.Ser2448=
XM_011516854.1:c.6237T>C	XP_011515156.1:p.Ser2079=
XM_005250800.3:c.10458T>C	XP_005250857.1:p.Ser3486=
XM_005250801.5:c.10458T>C	XP_005250858.1:p.Ser3486=
XM_011516848.2:c.10455T>C	XP_011515150.1:p.Ser3485=
XM_011516849.2:c.10380T>C	XP_011515151.1:p.Ser3460=
XM_011516850.2:c.10080T>C	XP_011515152.1:p.Ser3360=
XM_011516851.2:c.7344T>C	XP_011515153.1:p.Ser2448=
XM_011516852.2:c.7344T>C	XP_011515154.1:p.Ser2448=
XM_011516854.2:c.6237T>C	XP_011515156.1:p.Ser2079=
XM_017013109.1:c.10263T>C	XP_016868598.1:p.Ser3421=
XM_017013111.1:c.7344T>C	XP_016868600.1:p.Ser2448=
XM_017013112.1:c.6015T>C	XP_016868601.1:p.Ser2005=
XM_024447074.1:c.9243T>C	XP_024302842.1:p.Ser3081=
NM_017890.5:c.10458T>C MANE Plus Clinical	NP_060360.3:p.Ser3486=
NM_152564.5:c.10383T>C MANE Select	NP_689777.3:p.Ser3461=