Canonical Allele Identifier: CA462458050

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100865733A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99853505A>C , CM000670.2:g.99853505A>C	GRCh38
NC_000008.10:g.100865733A>C , CM000670.1:g.100865733A>C	GRCh37
NC_000008.9:g.100934909A>C	NCBI36
NG_007098.2:g.845240A>C , LRG_351:g.845240A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.10191A>C	ENSP00000507923.1:p.Ala3397=
ENST00000682358.1:n.10261A>C
ENST00000683334.1:c.*5873A>C	ENSP00000507369.1:n.*5873A>C
ENST00000357162.7:c.10116A>C MANE Select	ENSP00000349685.2:p.Ala3372=
ENST00000358544.7:c.10191A>C MANE Plus Clinical	ENSP00000351346.2:p.Ala3397=
ENST00000357162.6:c.10116A>C	ENSP00000349685.2:p.Ala3372=
ENST00000358544.6:c.10191A>C	ENSP00000351346.2:p.Ala3397=
NM_017890.4:c.10191A>C , LRG_351t1:c.10191A>C	NP_060360.3:p.Ala3397=
NM_152564.4:c.10116A>C , LRG_351t2:c.10116A>C	NP_689777.3:p.Ala3372=
XM_005250800.2:c.10191A>C	XP_005250857.1:p.Ala3397=
XM_005250801.3:c.10191A>C	XP_005250858.1:p.Ala3397=
XM_011516848.1:c.10188A>C	XP_011515150.1:p.Ala3396=
XM_011516849.1:c.10113A>C	XP_011515151.1:p.Ala3371=
XM_011516850.1:c.9813A>C	XP_011515152.1:p.Ala3271=
XM_011516851.1:c.7077A>C	XP_011515153.1:p.Ala2359=
XM_011516852.1:c.7077A>C	XP_011515154.1:p.Ala2359=
XM_011516854.1:c.5970A>C	XP_011515156.1:p.Ala1990=
XM_005250800.3:c.10191A>C	XP_005250857.1:p.Ala3397=
XM_005250801.5:c.10191A>C	XP_005250858.1:p.Ala3397=
XM_011516848.2:c.10188A>C	XP_011515150.1:p.Ala3396=
XM_011516849.2:c.10113A>C	XP_011515151.1:p.Ala3371=
XM_011516850.2:c.9813A>C	XP_011515152.1:p.Ala3271=
XM_011516851.2:c.7077A>C	XP_011515153.1:p.Ala2359=
XM_011516852.2:c.7077A>C	XP_011515154.1:p.Ala2359=
XM_011516854.2:c.5970A>C	XP_011515156.1:p.Ala1990=
XM_017013109.1:c.9996A>C	XP_016868598.1:p.Ala3332=
XM_017013111.1:c.7077A>C	XP_016868600.1:p.Ala2359=
XM_017013112.1:c.5748A>C	XP_016868601.1:p.Ala1916=
XM_024447074.1:c.8976A>C	XP_024302842.1:p.Ala2992=
NM_017890.5:c.10191A>C MANE Plus Clinical	NP_060360.3:p.Ala3397=
NM_152564.5:c.10116A>C MANE Select	NP_689777.3:p.Ala3372=