Canonical Allele Identifier: CA371792214

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880639G>C (hg19) ; chr8:g.99868411G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868411G>C , CM000670.2:g.99868411G>C	GRCh38
NC_000008.10:g.100880639G>C , CM000670.1:g.100880639G>C	GRCh37
NC_000008.9:g.100949815G>C	NCBI36
NG_007098.2:g.860146G>C , LRG_351:g.860146G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*507G>C	ENSP00000507923.1:n.*507G>C
ENST00000682358.1:n.11483G>C
ENST00000683334.1:c.*7095G>C	ENSP00000507369.1:n.*7095G>C
ENST00000357162.7:c.11338G>C MANE Select	ENSP00000349685.2:p.Val3780Leu
ENST00000358544.7:c.11413G>C MANE Plus Clinical	ENSP00000351346.2:p.Val3805Leu
ENST00000357162.6:c.11338G>C	ENSP00000349685.2:p.Val3780Leu
ENST00000358544.6:c.11413G>C	ENSP00000351346.2:p.Val3805Leu
ENST00000493587.1:n.355G>C
NM_017890.4:c.11413G>C , LRG_351t1:c.11413G>C	NP_060360.3:p.Val3805Leu
NM_152564.4:c.11338G>C , LRG_351t2:c.11338G>C	NP_689777.3:p.Val3780Leu
XM_005250800.2:c.11413G>C	XP_005250857.1:p.Val3805Leu
XM_005250801.3:c.11413G>C	XP_005250858.1:p.Val3805Leu
XM_011516848.1:c.11410G>C	XP_011515150.1:p.Val3804Leu
XM_011516849.1:c.11335G>C	XP_011515151.1:p.Val3779Leu
XM_011516850.1:c.11035G>C	XP_011515152.1:p.Val3679Leu
XM_011516851.1:c.8299G>C	XP_011515153.1:p.Val2767Leu
XM_011516852.1:c.8299G>C	XP_011515154.1:p.Val2767Leu
XM_011516854.1:c.7192G>C	XP_011515156.1:p.Val2398Leu
XM_005250800.3:c.11413G>C	XP_005250857.1:p.Val3805Leu
XM_005250801.5:c.11413G>C	XP_005250858.1:p.Val3805Leu
XM_011516848.2:c.11410G>C	XP_011515150.1:p.Val3804Leu
XM_011516849.2:c.11335G>C	XP_011515151.1:p.Val3779Leu
XM_011516850.2:c.11035G>C	XP_011515152.1:p.Val3679Leu
XM_011516851.2:c.8299G>C	XP_011515153.1:p.Val2767Leu
XM_011516852.2:c.8299G>C	XP_011515154.1:p.Val2767Leu
XM_011516854.2:c.7192G>C	XP_011515156.1:p.Val2398Leu
XM_017013109.1:c.11218G>C	XP_016868598.1:p.Val3740Leu
XM_017013111.1:c.8299G>C	XP_016868600.1:p.Val2767Leu
XM_017013112.1:c.6970G>C	XP_016868601.1:p.Val2324Leu
XM_024447074.1:c.10198G>C	XP_024302842.1:p.Val3400Leu
NM_017890.5:c.11413G>C MANE Plus Clinical	NP_060360.3:p.Val3805Leu
NM_152564.5:c.11338G>C MANE Select	NP_689777.3:p.Val3780Leu