Canonical Allele Identifier: CA371772939

Gene: VPS13B

Linked Data

• dbSNP Id: rs180177370
• gnomAD v2: 8-100829913-C-G
• gnomAD v4: 8-99817685-C-G
• MyVariant Identifiers: chr8:g.100829913C>G (hg19) ; chr8:g.99817685C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99817685C>G , CM000670.2:g.99817685C>G	GRCh38
NC_000008.10:g.100829913C>G , CM000670.1:g.100829913C>G	GRCh37
NC_000008.9:g.100899089C>G	NCBI36
NG_007098.2:g.809420C>G , LRG_351:g.809420C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.8318C>G	ENSP00000507923.1:p.Ser2773Trp
ENST00000682358.1:n.8388C>G
ENST00000683334.1:c.*4000C>G	ENSP00000507369.1:n.*4000C>G
ENST00000357162.7:c.8243C>G MANE Select	ENSP00000349685.2:p.Ser2748Trp
ENST00000358544.7:c.8318C>G MANE Plus Clinical	ENSP00000351346.2:p.Ser2773Trp
ENST00000357162.6:c.8243C>G	ENSP00000349685.2:p.Ser2748Trp
ENST00000358544.6:c.8318C>G	ENSP00000351346.2:p.Ser2773Trp
NM_017890.4:c.8318C>G , LRG_351t1:c.8318C>G	NP_060360.3:p.Ser2773Trp
NM_152564.4:c.8243C>G , LRG_351t2:c.8243C>G	NP_689777.3:p.Ser2748Trp
XM_005250800.2:c.8318C>G	XP_005250857.1:p.Ser2773Trp
XM_005250801.3:c.8318C>G	XP_005250858.1:p.Ser2773Trp
XM_011516848.1:c.8315C>G	XP_011515150.1:p.Ser2772Trp
XM_011516849.1:c.8240C>G	XP_011515151.1:p.Ser2747Trp
XM_011516850.1:c.7940C>G	XP_011515152.1:p.Ser2647Trp
XM_011516851.1:c.5204C>G	XP_011515153.1:p.Ser1735Trp
XM_011516852.1:c.5204C>G	XP_011515154.1:p.Ser1735Trp
XM_011516854.1:c.4097C>G	XP_011515156.1:p.Ser1366Trp
XM_005250800.3:c.8318C>G	XP_005250857.1:p.Ser2773Trp
XM_005250801.5:c.8318C>G	XP_005250858.1:p.Ser2773Trp
XM_011516848.2:c.8315C>G	XP_011515150.1:p.Ser2772Trp
XM_011516849.2:c.8240C>G	XP_011515151.1:p.Ser2747Trp
XM_011516850.2:c.7940C>G	XP_011515152.1:p.Ser2647Trp
XM_011516851.2:c.5204C>G	XP_011515153.1:p.Ser1735Trp
XM_011516852.2:c.5204C>G	XP_011515154.1:p.Ser1735Trp
XM_011516854.2:c.4097C>G	XP_011515156.1:p.Ser1366Trp
XM_017013109.1:c.8123C>G	XP_016868598.1:p.Ser2708Trp
XM_017013111.1:c.5204C>G	XP_016868600.1:p.Ser1735Trp
XM_017013112.1:c.3875C>G	XP_016868601.1:p.Ser1292Trp
XM_024447074.1:c.7103C>G	XP_024302842.1:p.Ser2368Trp
NM_017890.5:c.8318C>G MANE Plus Clinical	NP_060360.3:p.Ser2773Trp
NM_152564.5:c.8243C>G MANE Select	NP_689777.3:p.Ser2748Trp