Canonical Allele Identifier: CA264025

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 56645
• ClinVar RCV Id: RCV000050058 ; RCV000491892 ; RCV000412863
• dbSNP Id: rs386834070
• MyVariant Identifiers: chr8:g.100146872C>T (hg19) ; chr8:g.99134644C>T (hg38)
• PubMed: PMID:15173253

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99134644C>T , CM000670.2:g.99134644C>T	GRCh38
NC_000008.10:g.100146872C>T , CM000670.1:g.100146872C>T	GRCh37
NC_000008.9:g.100216048C>T	NCBI36
NG_007098.2:g.126379C>T , LRG_351:g.126379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.1219C>T	ENSP00000347281.2:p.Gln407Ter
ENST00000682145.1:n.1288C>T
ENST00000682153.1:c.1219C>T	ENSP00000507923.1:p.Gln407Ter
ENST00000682234.1:c.1219C>T	ENSP00000508225.1:p.Gln407Ter
ENST00000682358.1:n.1289C>T
ENST00000682853.1:n.1439C>T
ENST00000683334.1:c.1219C>T	ENSP00000507369.1:p.Gln407Ter
ENST00000683486.1:n.1285C>T
ENST00000683619.1:n.1322C>T
ENST00000683869.1:n.1300C>T
ENST00000684269.1:n.1320C>T
ENST00000684308.1:n.1285C>T
ENST00000357162.7:c.1219C>T MANE Select	ENSP00000349685.2:p.Gln407Ter
ENST00000358544.7:c.1219C>T MANE Plus Clinical	ENSP00000351346.2:p.Gln407Ter
ENST00000355155.5:c.1219C>T	ENSP00000347281.1:p.Gln407Ter
ENST00000357162.6:c.1219C>T	ENSP00000349685.2:p.Gln407Ter
ENST00000358544.6:c.1219C>T	ENSP00000351346.2:p.Gln407Ter
ENST00000496144.5:c.1219C>T	ENSP00000430900.1:p.Gln407Ter
NM_015243.2:c.1219C>T , LRG_351t3:c.1219C>T	NP_056058.2:p.Gln407Ter
NM_017890.4:c.1219C>T , LRG_351t1:c.1219C>T	NP_060360.3:p.Gln407Ter
NM_152564.4:c.1219C>T , LRG_351t2:c.1219C>T	NP_689777.3:p.Gln407Ter
XM_005250800.2:c.1219C>T	XP_005250857.1:p.Gln407Ter
XM_005250801.3:c.1219C>T	XP_005250858.1:p.Gln407Ter
XM_006716510.2:c.1219C>T	XP_006716573.1:p.Gln407Ter
XM_006716511.2:c.1219C>T	XP_006716574.1:p.Gln407Ter
XM_011516848.1:c.1219C>T	XP_011515150.1:p.Gln407Ter
XM_011516849.1:c.1219C>T	XP_011515151.1:p.Gln407Ter
XM_011516850.1:c.841C>T	XP_011515152.1:p.Gln281Ter
XM_011516853.1:c.1219C>T	XP_011515155.1:p.Gln407Ter
XM_011516855.1:c.1219C>T	XP_011515157.1:p.Gln407Ter
XM_011516856.1:c.1219C>T	XP_011515158.1:p.Gln407Ter
XM_011516857.1:c.1219C>T	XP_011515159.1:p.Gln407Ter
XM_011516858.1:c.1219C>T	XP_011515160.1:p.Gln407Ter
XM_011516859.1:c.1219C>T	XP_011515161.1:p.Gln407Ter
XM_011516860.1:c.1219C>T	XP_011515162.1:p.Gln407Ter
XM_011516861.1:c.1219C>T	XP_011515163.1:p.Gln407Ter
XM_011516862.1:c.1219C>T	XP_011515164.1:p.Gln407Ter
XM_011516863.1:c.1219C>T	XP_011515165.1:p.Gln407Ter
XM_011516864.1:c.1219C>T	XP_011515166.1:p.Gln407Ter
XM_011516865.1:c.1219C>T	XP_011515167.1:p.Gln407Ter
XM_011516866.1:c.1219C>T	XP_011515168.1:p.Gln407Ter
XR_928301.1:n.1322C>T
XR_928302.1:n.1322C>T
XR_928303.1:n.1322C>T
XR_928304.1:n.1322C>T
XM_005250800.3:c.1219C>T	XP_005250857.1:p.Gln407Ter
XM_005250801.5:c.1219C>T	XP_005250858.1:p.Gln407Ter
XM_006716510.3:c.1219C>T	XP_006716573.1:p.Gln407Ter
XM_011516848.2:c.1219C>T	XP_011515150.1:p.Gln407Ter
XM_011516849.2:c.1219C>T	XP_011515151.1:p.Gln407Ter
XM_011516850.2:c.841C>T	XP_011515152.1:p.Gln281Ter
XM_011516853.2:c.1219C>T	XP_011515155.1:p.Gln407Ter
XM_011516859.2:c.1219C>T	XP_011515161.1:p.Gln407Ter
XM_011516866.2:c.1219C>T	XP_011515168.1:p.Gln407Ter
XM_017013109.1:c.1219C>T	XP_016868598.1:p.Gln407Ter
XM_024447074.1:c.4C>T	XP_024302842.1:p.Gln2Ter
XM_024447075.1:c.1219C>T	XP_024302843.1:p.Gln407Ter
XR_001745481.1:n.1322C>T
XR_001745482.2:n.1322C>T
XR_001745484.2:n.1322C>T
XR_002956601.1:n.1322C>T
XR_002956602.1:n.1322C>T
XR_928302.2:n.1322C>T
NM_015243.3:c.1219C>T	NP_056058.2:p.Gln407Ter
NM_017890.5:c.1219C>T MANE Plus Clinical	NP_060360.3:p.Gln407Ter
NM_152564.5:c.1219C>T MANE Select	NP_689777.3:p.Gln407Ter