Canonical Allele Identifier: CA182321217

Gene: VPS13B

Linked Data

• dbSNP Id: rs1011719298
• gnomAD v4: 8-99861730-T-C
• MyVariant Identifiers: chr8:g.100873958T>C (hg19) ; chr8:g.99861730T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861730T>C , CM000670.2:g.99861730T>C	GRCh38
NC_000008.10:g.100873958T>C , CM000670.1:g.100873958T>C	GRCh37
NC_000008.9:g.100943134T>C	NCBI36
NG_007098.2:g.853465T>C , LRG_351:g.853465T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*214-46T>C	ENSP00000507923.1:n.*214-46T>C
ENST00000682358.1:n.11190-46T>C
ENST00000683334.1:c.*6802-46T>C	ENSP00000507369.1:n.*6802-46T>C
ENST00000357162.7:c.11045-46T>C MANE Select	ENSP00000349685.2:n.11045-46T>C
ENST00000358544.7:c.11120-46T>C MANE Plus Clinical	ENSP00000351346.2:n.11120-46T>C
ENST00000357162.6:c.11045-46T>C	ENSP00000349685.2:n.11045-46T>C
ENST00000358544.6:c.11120-46T>C	ENSP00000351346.2:n.11120-46T>C
NM_017890.4:c.11120-46T>C , LRG_351t1:c.11120-46T>C	NP_060360.3:n.11120-46T>C
NM_152564.4:c.11045-46T>C , LRG_351t2:c.11045-46T>C	NP_689777.3:n.11045-46T>C
XM_005250800.2:c.11120-46T>C	XP_005250857.1:n.11120-46T>C
XM_005250801.3:c.11120-46T>C	XP_005250858.1:n.11120-46T>C
XM_011516848.1:c.11117-46T>C	XP_011515150.1:n.11117-46T>C
XM_011516849.1:c.11042-46T>C	XP_011515151.1:n.11042-46T>C
XM_011516850.1:c.10742-46T>C	XP_011515152.1:n.10742-46T>C
XM_011516851.1:c.8006-46T>C	XP_011515153.1:n.8006-46T>C
XM_011516852.1:c.8006-46T>C	XP_011515154.1:n.8006-46T>C
XM_011516854.1:c.6899-46T>C	XP_011515156.1:n.6899-46T>C
XM_005250800.3:c.11120-46T>C	XP_005250857.1:n.11120-46T>C
XM_005250801.5:c.11120-46T>C	XP_005250858.1:n.11120-46T>C
XM_011516848.2:c.11117-46T>C	XP_011515150.1:n.11117-46T>C
XM_011516849.2:c.11042-46T>C	XP_011515151.1:n.11042-46T>C
XM_011516850.2:c.10742-46T>C	XP_011515152.1:n.10742-46T>C
XM_011516851.2:c.8006-46T>C	XP_011515153.1:n.8006-46T>C
XM_011516852.2:c.8006-46T>C	XP_011515154.1:n.8006-46T>C
XM_011516854.2:c.6899-46T>C	XP_011515156.1:n.6899-46T>C
XM_017013109.1:c.10925-46T>C	XP_016868598.1:n.10925-46T>C
XM_017013111.1:c.8006-46T>C	XP_016868600.1:n.8006-46T>C
XM_017013112.1:c.6677-46T>C	XP_016868601.1:n.6677-46T>C
XM_024447074.1:c.9905-46T>C	XP_024302842.1:n.9905-46T>C
NM_017890.5:c.11120-46T>C MANE Plus Clinical	NP_060360.3:n.11120-46T>C
NM_152564.5:c.11045-46T>C MANE Select	NP_689777.3:n.11045-46T>C