Canonical Allele Identifier: CA371867319

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729514A>C (hg19) ; chr8:g.99717286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717286A>C , CM000670.2:g.99717286A>C	GRCh38
NC_000008.10:g.100729514A>C , CM000670.1:g.100729514A>C	GRCh37
NC_000008.9:g.100798690A>C	NCBI36
NG_007098.2:g.709021A>C , LRG_351:g.709021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6645A>C	ENSP00000507923.1:p.Glu2215Asp
ENST00000682358.1:n.6715A>C
ENST00000683334.1:c.*2327A>C	ENSP00000507369.1:n.*2327A>C
ENST00000357162.7:c.6570A>C MANE Select	ENSP00000349685.2:p.Glu2190Asp
ENST00000358544.7:c.6645A>C MANE Plus Clinical	ENSP00000351346.2:p.Glu2215Asp
ENST00000357162.6:c.6570A>C	ENSP00000349685.2:p.Glu2190Asp
ENST00000358544.6:c.6645A>C	ENSP00000351346.2:p.Glu2215Asp
NM_017890.4:c.6645A>C , LRG_351t1:c.6645A>C	NP_060360.3:p.Glu2215Asp
NM_152564.4:c.6570A>C , LRG_351t2:c.6570A>C	NP_689777.3:p.Glu2190Asp
XM_005250800.2:c.6645A>C	XP_005250857.1:p.Glu2215Asp
XM_005250801.3:c.6645A>C	XP_005250858.1:p.Glu2215Asp
XM_011516848.1:c.6642A>C	XP_011515150.1:p.Glu2214Asp
XM_011516849.1:c.6567A>C	XP_011515151.1:p.Glu2189Asp
XM_011516850.1:c.6267A>C	XP_011515152.1:p.Glu2089Asp
XM_011516851.1:c.3531A>C	XP_011515153.1:p.Glu1177Asp
XM_011516852.1:c.3531A>C	XP_011515154.1:p.Glu1177Asp
XM_011516853.1:c.6645A>C	XP_011515155.1:p.Glu2215Asp
XM_011516854.1:c.2424A>C	XP_011515156.1:p.Glu808Asp
XM_005250800.3:c.6645A>C	XP_005250857.1:p.Glu2215Asp
XM_005250801.5:c.6645A>C	XP_005250858.1:p.Glu2215Asp
XM_011516848.2:c.6642A>C	XP_011515150.1:p.Glu2214Asp
XM_011516849.2:c.6567A>C	XP_011515151.1:p.Glu2189Asp
XM_011516850.2:c.6267A>C	XP_011515152.1:p.Glu2089Asp
XM_011516851.2:c.3531A>C	XP_011515153.1:p.Glu1177Asp
XM_011516852.2:c.3531A>C	XP_011515154.1:p.Glu1177Asp
XM_011516853.2:c.6645A>C	XP_011515155.1:p.Glu2215Asp
XM_011516854.2:c.2424A>C	XP_011515156.1:p.Glu808Asp
XM_017013109.1:c.6450A>C	XP_016868598.1:p.Glu2150Asp
XM_017013111.1:c.3531A>C	XP_016868600.1:p.Glu1177Asp
XM_017013112.1:c.2202A>C	XP_016868601.1:p.Glu734Asp
XM_024447074.1:c.5430A>C	XP_024302842.1:p.Glu1810Asp
NM_017890.5:c.6645A>C MANE Plus Clinical	NP_060360.3:p.Glu2215Asp
NM_152564.5:c.6570A>C MANE Select	NP_689777.3:p.Glu2190Asp