Canonical Allele Identifier: CA371782379

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 575693
• ClinVar RCV Id: RCV000697986
• dbSNP Id: rs1563499365
• gnomAD v4: 8-99835205-T-C
• MyVariant Identifiers: chr8:g.100847433T>C (hg19) ; chr8:g.99835205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835205T>C , CM000670.2:g.99835205T>C	GRCh38
NC_000008.10:g.100847433T>C , CM000670.1:g.100847433T>C	GRCh37
NC_000008.9:g.100916609T>C	NCBI36
NG_007098.2:g.826940T>C , LRG_351:g.826940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9698T>C	ENSP00000507923.1:p.Val3233Ala
ENST00000682358.1:n.9768T>C
ENST00000683334.1:c.*5380T>C	ENSP00000507369.1:n.*5380T>C
ENST00000357162.7:c.9623T>C MANE Select	ENSP00000349685.2:p.Val3208Ala
ENST00000358544.7:c.9698T>C MANE Plus Clinical	ENSP00000351346.2:p.Val3233Ala
ENST00000357162.6:c.9623T>C	ENSP00000349685.2:p.Val3208Ala
ENST00000358544.6:c.9698T>C	ENSP00000351346.2:p.Val3233Ala
NM_017890.4:c.9698T>C , LRG_351t1:c.9698T>C	NP_060360.3:p.Val3233Ala
NM_152564.4:c.9623T>C , LRG_351t2:c.9623T>C	NP_689777.3:p.Val3208Ala
XM_005250800.2:c.9698T>C	XP_005250857.1:p.Val3233Ala
XM_005250801.3:c.9698T>C	XP_005250858.1:p.Val3233Ala
XM_011516848.1:c.9695T>C	XP_011515150.1:p.Val3232Ala
XM_011516849.1:c.9620T>C	XP_011515151.1:p.Val3207Ala
XM_011516850.1:c.9320T>C	XP_011515152.1:p.Val3107Ala
XM_011516851.1:c.6584T>C	XP_011515153.1:p.Val2195Ala
XM_011516852.1:c.6584T>C	XP_011515154.1:p.Val2195Ala
XM_011516854.1:c.5477T>C	XP_011515156.1:p.Val1826Ala
XM_005250800.3:c.9698T>C	XP_005250857.1:p.Val3233Ala
XM_005250801.5:c.9698T>C	XP_005250858.1:p.Val3233Ala
XM_011516848.2:c.9695T>C	XP_011515150.1:p.Val3232Ala
XM_011516849.2:c.9620T>C	XP_011515151.1:p.Val3207Ala
XM_011516850.2:c.9320T>C	XP_011515152.1:p.Val3107Ala
XM_011516851.2:c.6584T>C	XP_011515153.1:p.Val2195Ala
XM_011516852.2:c.6584T>C	XP_011515154.1:p.Val2195Ala
XM_011516854.2:c.5477T>C	XP_011515156.1:p.Val1826Ala
XM_017013109.1:c.9503T>C	XP_016868598.1:p.Val3168Ala
XM_017013111.1:c.6584T>C	XP_016868600.1:p.Val2195Ala
XM_017013112.1:c.5255T>C	XP_016868601.1:p.Val1752Ala
XM_024447074.1:c.8483T>C	XP_024302842.1:p.Val2828Ala
NM_017890.5:c.9698T>C MANE Plus Clinical	NP_060360.3:p.Val3233Ala
NM_152564.5:c.9623T>C MANE Select	NP_689777.3:p.Val3208Ala