Canonical Allele Identifier: CA371790461

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861842-A-G
• MyVariant Identifiers: chr8:g.100874070A>G (hg19) ; chr8:g.99861842A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861842A>G , CM000670.2:g.99861842A>G	GRCh38
NC_000008.10:g.100874070A>G , CM000670.1:g.100874070A>G	GRCh37
NC_000008.9:g.100943246A>G	NCBI36
NG_007098.2:g.853577A>G , LRG_351:g.853577A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*280A>G	ENSP00000507923.1:n.*280A>G
ENST00000682358.1:n.11256A>G
ENST00000683334.1:c.*6868A>G	ENSP00000507369.1:n.*6868A>G
ENST00000357162.7:c.11111A>G MANE Select	ENSP00000349685.2:p.Asp3704Gly
ENST00000358544.7:c.11186A>G MANE Plus Clinical	ENSP00000351346.2:p.Asp3729Gly
ENST00000357162.6:c.11111A>G	ENSP00000349685.2:p.Asp3704Gly
ENST00000358544.6:c.11186A>G	ENSP00000351346.2:p.Asp3729Gly
NM_017890.4:c.11186A>G , LRG_351t1:c.11186A>G	NP_060360.3:p.Asp3729Gly
NM_152564.4:c.11111A>G , LRG_351t2:c.11111A>G	NP_689777.3:p.Asp3704Gly
XM_005250800.2:c.11186A>G	XP_005250857.1:p.Asp3729Gly
XM_005250801.3:c.11186A>G	XP_005250858.1:p.Asp3729Gly
XM_011516848.1:c.11183A>G	XP_011515150.1:p.Asp3728Gly
XM_011516849.1:c.11108A>G	XP_011515151.1:p.Asp3703Gly
XM_011516850.1:c.10808A>G	XP_011515152.1:p.Asp3603Gly
XM_011516851.1:c.8072A>G	XP_011515153.1:p.Asp2691Gly
XM_011516852.1:c.8072A>G	XP_011515154.1:p.Asp2691Gly
XM_011516854.1:c.6965A>G	XP_011515156.1:p.Asp2322Gly
XM_005250800.3:c.11186A>G	XP_005250857.1:p.Asp3729Gly
XM_005250801.5:c.11186A>G	XP_005250858.1:p.Asp3729Gly
XM_011516848.2:c.11183A>G	XP_011515150.1:p.Asp3728Gly
XM_011516849.2:c.11108A>G	XP_011515151.1:p.Asp3703Gly
XM_011516850.2:c.10808A>G	XP_011515152.1:p.Asp3603Gly
XM_011516851.2:c.8072A>G	XP_011515153.1:p.Asp2691Gly
XM_011516852.2:c.8072A>G	XP_011515154.1:p.Asp2691Gly
XM_011516854.2:c.6965A>G	XP_011515156.1:p.Asp2322Gly
XM_017013109.1:c.10991A>G	XP_016868598.1:p.Asp3664Gly
XM_017013111.1:c.8072A>G	XP_016868600.1:p.Asp2691Gly
XM_017013112.1:c.6743A>G	XP_016868601.1:p.Asp2248Gly
XM_024447074.1:c.9971A>G	XP_024302842.1:p.Asp3324Gly
NM_017890.5:c.11186A>G MANE Plus Clinical	NP_060360.3:p.Asp3729Gly
NM_152564.5:c.11111A>G MANE Select	NP_689777.3:p.Asp3704Gly