Canonical Allele Identifier: CA371772364

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2093226
• ClinVar RCV Id: RCV003018613
• MyVariant Identifiers: chr8:g.100829791C>G (hg19) ; chr8:g.99817563C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99817563C>G , CM000670.2:g.99817563C>G	GRCh38
NC_000008.10:g.100829791C>G , CM000670.1:g.100829791C>G	GRCh37
NC_000008.9:g.100898967C>G	NCBI36
NG_007098.2:g.809298C>G , LRG_351:g.809298C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8196C>G	ENSP00000507923.1:p.Ile2732Met
ENST00000682358.1:n.8266C>G
ENST00000683334.1:c.*3878C>G	ENSP00000507369.1:n.*3878C>G
ENST00000357162.7:c.8121C>G MANE Select	ENSP00000349685.2:p.Ile2707Met
ENST00000358544.7:c.8196C>G MANE Plus Clinical	ENSP00000351346.2:p.Ile2732Met
ENST00000357162.6:c.8121C>G	ENSP00000349685.2:p.Ile2707Met
ENST00000358544.6:c.8196C>G	ENSP00000351346.2:p.Ile2732Met
NM_017890.4:c.8196C>G , LRG_351t1:c.8196C>G	NP_060360.3:p.Ile2732Met
NM_152564.4:c.8121C>G , LRG_351t2:c.8121C>G	NP_689777.3:p.Ile2707Met
XM_005250800.2:c.8196C>G	XP_005250857.1:p.Ile2732Met
XM_005250801.3:c.8196C>G	XP_005250858.1:p.Ile2732Met
XM_011516848.1:c.8193C>G	XP_011515150.1:p.Ile2731Met
XM_011516849.1:c.8118C>G	XP_011515151.1:p.Ile2706Met
XM_011516850.1:c.7818C>G	XP_011515152.1:p.Ile2606Met
XM_011516851.1:c.5082C>G	XP_011515153.1:p.Ile1694Met
XM_011516852.1:c.5082C>G	XP_011515154.1:p.Ile1694Met
XM_011516854.1:c.3975C>G	XP_011515156.1:p.Ile1325Met
XM_005250800.3:c.8196C>G	XP_005250857.1:p.Ile2732Met
XM_005250801.5:c.8196C>G	XP_005250858.1:p.Ile2732Met
XM_011516848.2:c.8193C>G	XP_011515150.1:p.Ile2731Met
XM_011516849.2:c.8118C>G	XP_011515151.1:p.Ile2706Met
XM_011516850.2:c.7818C>G	XP_011515152.1:p.Ile2606Met
XM_011516851.2:c.5082C>G	XP_011515153.1:p.Ile1694Met
XM_011516852.2:c.5082C>G	XP_011515154.1:p.Ile1694Met
XM_011516854.2:c.3975C>G	XP_011515156.1:p.Ile1325Met
XM_017013109.1:c.8001C>G	XP_016868598.1:p.Ile2667Met
XM_017013111.1:c.5082C>G	XP_016868600.1:p.Ile1694Met
XM_017013112.1:c.3753C>G	XP_016868601.1:p.Ile1251Met
XM_024447074.1:c.6981C>G	XP_024302842.1:p.Ile2327Met
NM_017890.5:c.8196C>G MANE Plus Clinical	NP_060360.3:p.Ile2732Met
NM_152564.5:c.8121C>G MANE Select	NP_689777.3:p.Ile2707Met