Canonical Allele Identifier: CA462449171

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2034214
• ClinVar RCV Id: RCV002867717
• gnomAD v4: 8-99776832-C-T
• MyVariant Identifiers: chr8:g.100789060C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776832C>T , CM000670.2:g.99776832C>T	GRCh38
NC_000008.10:g.100789060C>T , CM000670.1:g.100789060C>T	GRCh37
NC_000008.9:g.100858236C>T	NCBI36
NG_007098.2:g.768567C>T , LRG_351:g.768567C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7380C>T	ENSP00000507923.1:p.Ala2460=
ENST00000682358.1:n.7450C>T
ENST00000683334.1:c.*3062C>T	ENSP00000507369.1:n.*3062C>T
ENST00000357162.7:c.7305C>T MANE Select	ENSP00000349685.2:p.Ala2435=
ENST00000358544.7:c.7380C>T MANE Plus Clinical	ENSP00000351346.2:p.Ala2460=
ENST00000357162.6:c.7305C>T	ENSP00000349685.2:p.Ala2435=
ENST00000358544.6:c.7380C>T	ENSP00000351346.2:p.Ala2460=
ENST00000518569.1:n.378-1850C>T
NM_017890.4:c.7380C>T , LRG_351t1:c.7380C>T	NP_060360.3:p.Ala2460=
NM_152564.4:c.7305C>T , LRG_351t2:c.7305C>T	NP_689777.3:p.Ala2435=
XM_005250800.2:c.7380C>T	XP_005250857.1:p.Ala2460=
XM_005250801.3:c.7380C>T	XP_005250858.1:p.Ala2460=
XM_011516848.1:c.7377C>T	XP_011515150.1:p.Ala2459=
XM_011516849.1:c.7302C>T	XP_011515151.1:p.Ala2434=
XM_011516850.1:c.7002C>T	XP_011515152.1:p.Ala2334=
XM_011516851.1:c.4266C>T	XP_011515153.1:p.Ala1422=
XM_011516852.1:c.4266C>T	XP_011515154.1:p.Ala1422=
XM_011516853.1:c.7380C>T	XP_011515155.1:p.Ala2460=
XM_011516854.1:c.3159C>T	XP_011515156.1:p.Ala1053=
XR_928446.1:n.1830+5646G>A
XM_005250800.3:c.7380C>T	XP_005250857.1:p.Ala2460=
XM_005250801.5:c.7380C>T	XP_005250858.1:p.Ala2460=
XM_011516848.2:c.7377C>T	XP_011515150.1:p.Ala2459=
XM_011516849.2:c.7302C>T	XP_011515151.1:p.Ala2434=
XM_011516850.2:c.7002C>T	XP_011515152.1:p.Ala2334=
XM_011516851.2:c.4266C>T	XP_011515153.1:p.Ala1422=
XM_011516852.2:c.4266C>T	XP_011515154.1:p.Ala1422=
XM_011516853.2:c.7380C>T	XP_011515155.1:p.Ala2460=
XM_011516854.2:c.3159C>T	XP_011515156.1:p.Ala1053=
XM_017013109.1:c.7185C>T	XP_016868598.1:p.Ala2395=
XM_017013111.1:c.4266C>T	XP_016868600.1:p.Ala1422=
XM_017013112.1:c.2937C>T	XP_016868601.1:p.Ala979=
XM_024447074.1:c.6165C>T	XP_024302842.1:p.Ala2055=
NM_017890.5:c.7380C>T MANE Plus Clinical	NP_060360.3:p.Ala2460=
NM_152564.5:c.7305C>T MANE Select	NP_689777.3:p.Ala2435=