Canonical Allele Identifier: CA4824208

Gene: VPS13B

Linked Data

• dbSNP Id: rs753742162
• ExAC: 8:100789175 C / T
• MyVariant Identifiers: chr8:g.100789175C>T (hg19) ; chr8:g.99776947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776947C>T , CM000670.2:g.99776947C>T	GRCh38
NC_000008.10:g.100789175C>T , CM000670.1:g.100789175C>T	GRCh37
NC_000008.9:g.100858351C>T	NCBI36
NG_007098.2:g.768682C>T , LRG_351:g.768682C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7495C>T	ENSP00000507923.1:p.Leu2499=
ENST00000682358.1:n.7565C>T
ENST00000683334.1:c.*3177C>T	ENSP00000507369.1:n.*3177C>T
ENST00000357162.7:c.7420C>T MANE Select	ENSP00000349685.2:p.Leu2474=
ENST00000358544.7:c.7495C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu2499=
ENST00000357162.6:c.7420C>T	ENSP00000349685.2:p.Leu2474=
ENST00000358544.6:c.7495C>T	ENSP00000351346.2:p.Leu2499=
ENST00000518569.1:n.378-1735C>T
NM_017890.4:c.7495C>T , LRG_351t1:c.7495C>T	NP_060360.3:p.Leu2499=
NM_152564.4:c.7420C>T , LRG_351t2:c.7420C>T	NP_689777.3:p.Leu2474=
XM_005250800.2:c.7495C>T	XP_005250857.1:p.Leu2499=
XM_005250801.3:c.7495C>T	XP_005250858.1:p.Leu2499=
XM_011516848.1:c.7492C>T	XP_011515150.1:p.Leu2498=
XM_011516849.1:c.7417C>T	XP_011515151.1:p.Leu2473=
XM_011516850.1:c.7117C>T	XP_011515152.1:p.Leu2373=
XM_011516851.1:c.4381C>T	XP_011515153.1:p.Leu1461=
XM_011516852.1:c.4381C>T	XP_011515154.1:p.Leu1461=
XM_011516853.1:c.7495C>T	XP_011515155.1:p.Leu2499=
XM_011516854.1:c.3274C>T	XP_011515156.1:p.Leu1092=
XR_928446.1:n.1830+5531G>A
XM_005250800.3:c.7495C>T	XP_005250857.1:p.Leu2499=
XM_005250801.5:c.7495C>T	XP_005250858.1:p.Leu2499=
XM_011516848.2:c.7492C>T	XP_011515150.1:p.Leu2498=
XM_011516849.2:c.7417C>T	XP_011515151.1:p.Leu2473=
XM_011516850.2:c.7117C>T	XP_011515152.1:p.Leu2373=
XM_011516851.2:c.4381C>T	XP_011515153.1:p.Leu1461=
XM_011516852.2:c.4381C>T	XP_011515154.1:p.Leu1461=
XM_011516853.2:c.7495C>T	XP_011515155.1:p.Leu2499=
XM_011516854.2:c.3274C>T	XP_011515156.1:p.Leu1092=
XM_017013109.1:c.7300C>T	XP_016868598.1:p.Leu2434=
XM_017013111.1:c.4381C>T	XP_016868600.1:p.Leu1461=
XM_017013112.1:c.3052C>T	XP_016868601.1:p.Leu1018=
XM_024447074.1:c.6280C>T	XP_024302842.1:p.Leu2094=
NM_017890.5:c.7495C>T MANE Plus Clinical	NP_060360.3:p.Leu2499=
NM_152564.5:c.7420C>T MANE Select	NP_689777.3:p.Leu2474=