Canonical Allele Identifier: CA371776325

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1346725
• ClinVar RCV Id: RCV002030161
• dbSNP Id: rs375911218
• MyVariant Identifiers: chr8:g.100831715C>A (hg19) ; chr8:g.99819487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819487C>A , CM000670.2:g.99819487C>A	GRCh38
NC_000008.10:g.100831715C>A , CM000670.1:g.100831715C>A	GRCh37
NC_000008.9:g.100900891C>A	NCBI36
NG_007098.2:g.811222C>A , LRG_351:g.811222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8772C>A	ENSP00000507923.1:p.His2924Gln
ENST00000682358.1:n.8842C>A
ENST00000683334.1:c.*4454C>A	ENSP00000507369.1:n.*4454C>A
ENST00000357162.7:c.8697C>A MANE Select	ENSP00000349685.2:p.His2899Gln
ENST00000358544.7:c.8772C>A MANE Plus Clinical	ENSP00000351346.2:p.His2924Gln
ENST00000357162.6:c.8697C>A	ENSP00000349685.2:p.His2899Gln
ENST00000358544.6:c.8772C>A	ENSP00000351346.2:p.His2924Gln
NM_017890.4:c.8772C>A , LRG_351t1:c.8772C>A	NP_060360.3:p.His2924Gln
NM_152564.4:c.8697C>A , LRG_351t2:c.8697C>A	NP_689777.3:p.His2899Gln
XM_005250800.2:c.8772C>A	XP_005250857.1:p.His2924Gln
XM_005250801.3:c.8772C>A	XP_005250858.1:p.His2924Gln
XM_011516848.1:c.8769C>A	XP_011515150.1:p.His2923Gln
XM_011516849.1:c.8694C>A	XP_011515151.1:p.His2898Gln
XM_011516850.1:c.8394C>A	XP_011515152.1:p.His2798Gln
XM_011516851.1:c.5658C>A	XP_011515153.1:p.His1886Gln
XM_011516852.1:c.5658C>A	XP_011515154.1:p.His1886Gln
XM_011516854.1:c.4551C>A	XP_011515156.1:p.His1517Gln
XM_005250800.3:c.8772C>A	XP_005250857.1:p.His2924Gln
XM_005250801.5:c.8772C>A	XP_005250858.1:p.His2924Gln
XM_011516848.2:c.8769C>A	XP_011515150.1:p.His2923Gln
XM_011516849.2:c.8694C>A	XP_011515151.1:p.His2898Gln
XM_011516850.2:c.8394C>A	XP_011515152.1:p.His2798Gln
XM_011516851.2:c.5658C>A	XP_011515153.1:p.His1886Gln
XM_011516852.2:c.5658C>A	XP_011515154.1:p.His1886Gln
XM_011516854.2:c.4551C>A	XP_011515156.1:p.His1517Gln
XM_017013109.1:c.8577C>A	XP_016868598.1:p.His2859Gln
XM_017013111.1:c.5658C>A	XP_016868600.1:p.His1886Gln
XM_017013112.1:c.4329C>A	XP_016868601.1:p.His1443Gln
XM_024447074.1:c.7557C>A	XP_024302842.1:p.His2519Gln
NM_017890.5:c.8772C>A MANE Plus Clinical	NP_060360.3:p.His2924Gln
NM_152564.5:c.8697C>A MANE Select	NP_689777.3:p.His2899Gln