Canonical Allele Identifier: CA371791802

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2136312
• ClinVar RCV Id: RCV003037111
• dbSNP Id: rs1210353554
• gnomAD v2: 8-100880544-C-T
• gnomAD v4: 8-99868316-C-T
• MyVariant Identifiers: chr8:g.100880544C>T (hg19) ; chr8:g.99868316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868316C>T , CM000670.2:g.99868316C>T	GRCh38
NC_000008.10:g.100880544C>T , CM000670.1:g.100880544C>T	GRCh37
NC_000008.9:g.100949720C>T	NCBI36
NG_007098.2:g.860051C>T , LRG_351:g.860051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*412C>T	ENSP00000507923.1:n.*412C>T
ENST00000682358.1:n.11388C>T
ENST00000683334.1:c.*7000C>T	ENSP00000507369.1:n.*7000C>T
ENST00000357162.7:c.11243C>T MANE Select	ENSP00000349685.2:p.Pro3748Leu
ENST00000358544.7:c.11318C>T MANE Plus Clinical	ENSP00000351346.2:p.Pro3773Leu
ENST00000357162.6:c.11243C>T	ENSP00000349685.2:p.Pro3748Leu
ENST00000358544.6:c.11318C>T	ENSP00000351346.2:p.Pro3773Leu
ENST00000493587.1:n.260C>T
NM_017890.4:c.11318C>T , LRG_351t1:c.11318C>T	NP_060360.3:p.Pro3773Leu
NM_152564.4:c.11243C>T , LRG_351t2:c.11243C>T	NP_689777.3:p.Pro3748Leu
XM_005250800.2:c.11318C>T	XP_005250857.1:p.Pro3773Leu
XM_005250801.3:c.11318C>T	XP_005250858.1:p.Pro3773Leu
XM_011516848.1:c.11315C>T	XP_011515150.1:p.Pro3772Leu
XM_011516849.1:c.11240C>T	XP_011515151.1:p.Pro3747Leu
XM_011516850.1:c.10940C>T	XP_011515152.1:p.Pro3647Leu
XM_011516851.1:c.8204C>T	XP_011515153.1:p.Pro2735Leu
XM_011516852.1:c.8204C>T	XP_011515154.1:p.Pro2735Leu
XM_011516854.1:c.7097C>T	XP_011515156.1:p.Pro2366Leu
XM_005250800.3:c.11318C>T	XP_005250857.1:p.Pro3773Leu
XM_005250801.5:c.11318C>T	XP_005250858.1:p.Pro3773Leu
XM_011516848.2:c.11315C>T	XP_011515150.1:p.Pro3772Leu
XM_011516849.2:c.11240C>T	XP_011515151.1:p.Pro3747Leu
XM_011516850.2:c.10940C>T	XP_011515152.1:p.Pro3647Leu
XM_011516851.2:c.8204C>T	XP_011515153.1:p.Pro2735Leu
XM_011516852.2:c.8204C>T	XP_011515154.1:p.Pro2735Leu
XM_011516854.2:c.7097C>T	XP_011515156.1:p.Pro2366Leu
XM_017013109.1:c.11123C>T	XP_016868598.1:p.Pro3708Leu
XM_017013111.1:c.8204C>T	XP_016868600.1:p.Pro2735Leu
XM_017013112.1:c.6875C>T	XP_016868601.1:p.Pro2292Leu
XM_024447074.1:c.10103C>T	XP_024302842.1:p.Pro3368Leu
NM_017890.5:c.11318C>T MANE Plus Clinical	NP_060360.3:p.Pro3773Leu
NM_152564.5:c.11243C>T MANE Select	NP_689777.3:p.Pro3748Leu