Canonical Allele Identifier: CA462458168

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100865904A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99853676A>C , CM000670.2:g.99853676A>C	GRCh38
NC_000008.10:g.100865904A>C , CM000670.1:g.100865904A>C	GRCh37
NC_000008.9:g.100935080A>C	NCBI36
NG_007098.2:g.845411A>C , LRG_351:g.845411A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.10362A>C	ENSP00000507923.1:p.Leu3454=
ENST00000682358.1:n.10432A>C
ENST00000683334.1:c.*6044A>C	ENSP00000507369.1:n.*6044A>C
ENST00000357162.7:c.10287A>C MANE Select	ENSP00000349685.2:p.Leu3429=
ENST00000358544.7:c.10362A>C MANE Plus Clinical	ENSP00000351346.2:p.Leu3454=
ENST00000357162.6:c.10287A>C	ENSP00000349685.2:p.Leu3429=
ENST00000358544.6:c.10362A>C	ENSP00000351346.2:p.Leu3454=
NM_017890.4:c.10362A>C , LRG_351t1:c.10362A>C	NP_060360.3:p.Leu3454=
NM_152564.4:c.10287A>C , LRG_351t2:c.10287A>C	NP_689777.3:p.Leu3429=
XM_005250800.2:c.10362A>C	XP_005250857.1:p.Leu3454=
XM_005250801.3:c.10362A>C	XP_005250858.1:p.Leu3454=
XM_011516848.1:c.10359A>C	XP_011515150.1:p.Leu3453=
XM_011516849.1:c.10284A>C	XP_011515151.1:p.Leu3428=
XM_011516850.1:c.9984A>C	XP_011515152.1:p.Leu3328=
XM_011516851.1:c.7248A>C	XP_011515153.1:p.Leu2416=
XM_011516852.1:c.7248A>C	XP_011515154.1:p.Leu2416=
XM_011516854.1:c.6141A>C	XP_011515156.1:p.Leu2047=
XM_005250800.3:c.10362A>C	XP_005250857.1:p.Leu3454=
XM_005250801.5:c.10362A>C	XP_005250858.1:p.Leu3454=
XM_011516848.2:c.10359A>C	XP_011515150.1:p.Leu3453=
XM_011516849.2:c.10284A>C	XP_011515151.1:p.Leu3428=
XM_011516850.2:c.9984A>C	XP_011515152.1:p.Leu3328=
XM_011516851.2:c.7248A>C	XP_011515153.1:p.Leu2416=
XM_011516852.2:c.7248A>C	XP_011515154.1:p.Leu2416=
XM_011516854.2:c.6141A>C	XP_011515156.1:p.Leu2047=
XM_017013109.1:c.10167A>C	XP_016868598.1:p.Leu3389=
XM_017013111.1:c.7248A>C	XP_016868600.1:p.Leu2416=
XM_017013112.1:c.5919A>C	XP_016868601.1:p.Leu1973=
XM_024447074.1:c.9147A>C	XP_024302842.1:p.Leu3049=
NM_017890.5:c.10362A>C MANE Plus Clinical	NP_060360.3:p.Leu3454=
NM_152564.5:c.10287A>C MANE Select	NP_689777.3:p.Leu3429=