Canonical Allele Identifier: CA371793728

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1403153
• ClinVar RCV Id: RCV001925281
• dbSNP Id: rs2130972661
• MyVariant Identifiers: chr8:g.100883101T>G (hg19) ; chr8:g.99870873T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99870873T>G , CM000670.2:g.99870873T>G	GRCh38
NC_000008.10:g.100883101T>G , CM000670.1:g.100883101T>G	GRCh37
NC_000008.9:g.100952277T>G	NCBI36
NG_007098.2:g.862608T>G , LRG_351:g.862608T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*650T>G	ENSP00000507923.1:n.*650T>G
ENST00000682358.1:n.11626T>G
ENST00000683334.1:c.*7238T>G	ENSP00000507369.1:n.*7238T>G
ENST00000357162.7:c.11481T>G MANE Select	ENSP00000349685.2:p.His3827Gln
ENST00000358544.7:c.11556T>G MANE Plus Clinical	ENSP00000351346.2:p.His3852Gln
ENST00000357162.6:c.11481T>G	ENSP00000349685.2:p.His3827Gln
ENST00000358544.6:c.11556T>G	ENSP00000351346.2:p.His3852Gln
ENST00000493587.1:n.498T>G
NM_017890.4:c.11556T>G , LRG_351t1:c.11556T>G	NP_060360.3:p.His3852Gln
NM_152564.4:c.11481T>G , LRG_351t2:c.11481T>G	NP_689777.3:p.His3827Gln
XM_005250800.2:c.11556T>G	XP_005250857.1:p.His3852Gln
XM_005250801.3:c.11556T>G	XP_005250858.1:p.His3852Gln
XM_011516848.1:c.11553T>G	XP_011515150.1:p.His3851Gln
XM_011516849.1:c.11478T>G	XP_011515151.1:p.His3826Gln
XM_011516850.1:c.11178T>G	XP_011515152.1:p.His3726Gln
XM_011516851.1:c.8442T>G	XP_011515153.1:p.His2814Gln
XM_011516852.1:c.8442T>G	XP_011515154.1:p.His2814Gln
XM_011516854.1:c.7335T>G	XP_011515156.1:p.His2445Gln
XM_005250800.3:c.11556T>G	XP_005250857.1:p.His3852Gln
XM_005250801.5:c.11556T>G	XP_005250858.1:p.His3852Gln
XM_011516848.2:c.11553T>G	XP_011515150.1:p.His3851Gln
XM_011516849.2:c.11478T>G	XP_011515151.1:p.His3826Gln
XM_011516850.2:c.11178T>G	XP_011515152.1:p.His3726Gln
XM_011516851.2:c.8442T>G	XP_011515153.1:p.His2814Gln
XM_011516852.2:c.8442T>G	XP_011515154.1:p.His2814Gln
XM_011516854.2:c.7335T>G	XP_011515156.1:p.His2445Gln
XM_017013109.1:c.11361T>G	XP_016868598.1:p.His3787Gln
XM_017013111.1:c.8442T>G	XP_016868600.1:p.His2814Gln
XM_017013112.1:c.7113T>G	XP_016868601.1:p.His2371Gln
XM_024447074.1:c.10341T>G	XP_024302842.1:p.His3447Gln
NM_017890.5:c.11556T>G MANE Plus Clinical	NP_060360.3:p.His3852Gln
NM_152564.5:c.11481T>G MANE Select	NP_689777.3:p.His3827Gln