Canonical Allele Identifier: CA4824532

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1338320
• ClinVar RCV Id: RCV001817691 ; RCV001869781 ; RCV003407829
• dbSNP Id: rs143787982
• ExAC: 8:100831746 G / A
• gnomAD v2: 8-100831746-G-A
• gnomAD v3: 8-99819518-G-A
• gnomAD v4: 8-99819518-G-A
• COSMIC: COSM1700413 ; COSM1700414
• MyVariant Identifiers: chr8:g.100831746G>A (hg19) ; chr8:g.99819518G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819518G>A , CM000670.2:g.99819518G>A	GRCh38
NC_000008.10:g.100831746G>A , CM000670.1:g.100831746G>A	GRCh37
NC_000008.9:g.100900922G>A	NCBI36
NG_007098.2:g.811253G>A , LRG_351:g.811253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8803G>A	ENSP00000507923.1:p.Glu2935Lys
ENST00000682358.1:n.8873G>A
ENST00000683334.1:c.*4485G>A	ENSP00000507369.1:n.*4485G>A
ENST00000357162.7:c.8728G>A MANE Select	ENSP00000349685.2:p.Glu2910Lys
ENST00000358544.7:c.8803G>A MANE Plus Clinical	ENSP00000351346.2:p.Glu2935Lys
ENST00000357162.6:c.8728G>A	ENSP00000349685.2:p.Glu2910Lys
ENST00000358544.6:c.8803G>A	ENSP00000351346.2:p.Glu2935Lys
NM_017890.4:c.8803G>A , LRG_351t1:c.8803G>A	NP_060360.3:p.Glu2935Lys
NM_152564.4:c.8728G>A , LRG_351t2:c.8728G>A	NP_689777.3:p.Glu2910Lys
XM_005250800.2:c.8803G>A	XP_005250857.1:p.Glu2935Lys
XM_005250801.3:c.8803G>A	XP_005250858.1:p.Glu2935Lys
XM_011516848.1:c.8800G>A	XP_011515150.1:p.Glu2934Lys
XM_011516849.1:c.8725G>A	XP_011515151.1:p.Glu2909Lys
XM_011516850.1:c.8425G>A	XP_011515152.1:p.Glu2809Lys
XM_011516851.1:c.5689G>A	XP_011515153.1:p.Glu1897Lys
XM_011516852.1:c.5689G>A	XP_011515154.1:p.Glu1897Lys
XM_011516854.1:c.4582G>A	XP_011515156.1:p.Glu1528Lys
XM_005250800.3:c.8803G>A	XP_005250857.1:p.Glu2935Lys
XM_005250801.5:c.8803G>A	XP_005250858.1:p.Glu2935Lys
XM_011516848.2:c.8800G>A	XP_011515150.1:p.Glu2934Lys
XM_011516849.2:c.8725G>A	XP_011515151.1:p.Glu2909Lys
XM_011516850.2:c.8425G>A	XP_011515152.1:p.Glu2809Lys
XM_011516851.2:c.5689G>A	XP_011515153.1:p.Glu1897Lys
XM_011516852.2:c.5689G>A	XP_011515154.1:p.Glu1897Lys
XM_011516854.2:c.4582G>A	XP_011515156.1:p.Glu1528Lys
XM_017013109.1:c.8608G>A	XP_016868598.1:p.Glu2870Lys
XM_017013111.1:c.5689G>A	XP_016868600.1:p.Glu1897Lys
XM_017013112.1:c.4360G>A	XP_016868601.1:p.Glu1454Lys
XM_024447074.1:c.7588G>A	XP_024302842.1:p.Glu2530Lys
NM_017890.5:c.8803G>A MANE Plus Clinical	NP_060360.3:p.Glu2935Lys
NM_152564.5:c.8728G>A MANE Select	NP_689777.3:p.Glu2910Lys