Canonical Allele Identifier: CA371876427

Gene: VPS13B

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99778903C>T , CM000670.2:g.99778903C>T	GRCh38
NC_000008.10:g.100791131C>T , CM000670.1:g.100791131C>T	GRCh37
NC_000008.9:g.100860307C>T	NCBI36
NG_007098.2:g.770638C>T , LRG_351:g.770638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7726C>T	ENSP00000507923.1:p.Gln2576Ter
ENST00000682358.1:n.7796C>T
ENST00000683334.1:c.*3408C>T	ENSP00000507369.1:n.*3408C>T
ENST00000357162.7:c.7651C>T MANE Select	ENSP00000349685.2:p.Gln2551Ter
ENST00000358544.7:c.7726C>T MANE Plus Clinical	ENSP00000351346.2:p.Gln2576Ter
ENST00000357162.6:c.7651C>T	ENSP00000349685.2:p.Gln2551Ter
ENST00000358544.6:c.7726C>T	ENSP00000351346.2:p.Gln2576Ter
NM_017890.4:c.7726C>T , LRG_351t1:c.7726C>T	NP_060360.3:p.Gln2576Ter
NM_152564.4:c.7651C>T , LRG_351t2:c.7651C>T	NP_689777.3:p.Gln2551Ter
XM_005250800.2:c.7726C>T	XP_005250857.1:p.Gln2576Ter
XM_005250801.3:c.7726C>T	XP_005250858.1:p.Gln2576Ter
XM_011516848.1:c.7723C>T	XP_011515150.1:p.Gln2575Ter
XM_011516849.1:c.7648C>T	XP_011515151.1:p.Gln2550Ter
XM_011516850.1:c.7348C>T	XP_011515152.1:p.Gln2450Ter
XM_011516851.1:c.4612C>T	XP_011515153.1:p.Gln1538Ter
XM_011516852.1:c.4612C>T	XP_011515154.1:p.Gln1538Ter
XM_011516853.1:c.7726C>T	XP_011515155.1:p.Gln2576Ter
XM_011516854.1:c.3505C>T	XP_011515156.1:p.Gln1169Ter
XR_928446.1:n.1830+3575G>A
XM_005250800.3:c.7726C>T	XP_005250857.1:p.Gln2576Ter
XM_005250801.5:c.7726C>T	XP_005250858.1:p.Gln2576Ter
XM_011516848.2:c.7723C>T	XP_011515150.1:p.Gln2575Ter
XM_011516849.2:c.7648C>T	XP_011515151.1:p.Gln2550Ter
XM_011516850.2:c.7348C>T	XP_011515152.1:p.Gln2450Ter
XM_011516851.2:c.4612C>T	XP_011515153.1:p.Gln1538Ter
XM_011516852.2:c.4612C>T	XP_011515154.1:p.Gln1538Ter
XM_011516853.2:c.7726C>T	XP_011515155.1:p.Gln2576Ter
XM_011516854.2:c.3505C>T	XP_011515156.1:p.Gln1169Ter
XM_017013109.1:c.7531C>T	XP_016868598.1:p.Gln2511Ter
XM_017013111.1:c.4612C>T	XP_016868600.1:p.Gln1538Ter
XM_017013112.1:c.3283C>T	XP_016868601.1:p.Gln1095Ter
XM_024447074.1:c.6511C>T	XP_024302842.1:p.Gln2171Ter
NM_017890.5:c.7726C>T MANE Plus Clinical	NP_060360.3:p.Gln2576Ter
NM_152564.5:c.7651C>T MANE Select	NP_689777.3:p.Gln2551Ter