Canonical Allele Identifier: CA182337349

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 1644284
• ClinVar RCV Id: RCV002146079
• dbSNP Id: rs757859930
• gnomAD v2: 8-100844848-C-T
• gnomAD v3: 8-99832620-C-T
• gnomAD v4: 8-99832620-C-T
• COSMIC: COSM3785816 ; COSM3785817
• MyVariant Identifiers: chr8:g.100844848C>T (hg19) ; chr8:g.99832620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832620C>T , CM000670.2:g.99832620C>T	GRCh38
NC_000008.10:g.100844848C>T , CM000670.1:g.100844848C>T	GRCh37
NC_000008.9:g.100914024C>T	NCBI36
NG_007098.2:g.824355C>T , LRG_351:g.824355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9657C>T	ENSP00000507923.1:p.Leu3219=
ENST00000682358.1:n.9727C>T
ENST00000683334.1:c.*5339C>T	ENSP00000507369.1:n.*5339C>T
ENST00000357162.7:c.9582C>T MANE Select	ENSP00000349685.2:p.Leu3194=
ENST00000358544.7:c.9657C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu3219=
ENST00000357162.6:c.9582C>T	ENSP00000349685.2:p.Leu3194=
ENST00000358544.6:c.9657C>T	ENSP00000351346.2:p.Leu3219=
NM_017890.4:c.9657C>T , LRG_351t1:c.9657C>T	NP_060360.3:p.Leu3219=
NM_152564.4:c.9582C>T , LRG_351t2:c.9582C>T	NP_689777.3:p.Leu3194=
XM_005250800.2:c.9657C>T	XP_005250857.1:p.Leu3219=
XM_005250801.3:c.9657C>T	XP_005250858.1:p.Leu3219=
XM_011516848.1:c.9654C>T	XP_011515150.1:p.Leu3218=
XM_011516849.1:c.9579C>T	XP_011515151.1:p.Leu3193=
XM_011516850.1:c.9279C>T	XP_011515152.1:p.Leu3093=
XM_011516851.1:c.6543C>T	XP_011515153.1:p.Leu2181=
XM_011516852.1:c.6543C>T	XP_011515154.1:p.Leu2181=
XM_011516854.1:c.5436C>T	XP_011515156.1:p.Leu1812=
XM_005250800.3:c.9657C>T	XP_005250857.1:p.Leu3219=
XM_005250801.5:c.9657C>T	XP_005250858.1:p.Leu3219=
XM_011516848.2:c.9654C>T	XP_011515150.1:p.Leu3218=
XM_011516849.2:c.9579C>T	XP_011515151.1:p.Leu3193=
XM_011516850.2:c.9279C>T	XP_011515152.1:p.Leu3093=
XM_011516851.2:c.6543C>T	XP_011515153.1:p.Leu2181=
XM_011516852.2:c.6543C>T	XP_011515154.1:p.Leu2181=
XM_011516854.2:c.5436C>T	XP_011515156.1:p.Leu1812=
XM_017013109.1:c.9462C>T	XP_016868598.1:p.Leu3154=
XM_017013111.1:c.6543C>T	XP_016868600.1:p.Leu2181=
XM_017013112.1:c.5214C>T	XP_016868601.1:p.Leu1738=
XM_024447074.1:c.8442C>T	XP_024302842.1:p.Leu2814=
NM_017890.5:c.9657C>T MANE Plus Clinical	NP_060360.3:p.Leu3219=
NM_152564.5:c.9582C>T MANE Select	NP_689777.3:p.Leu3194=