Canonical Allele Identifier: CA371772363

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100829790T>G (hg19) ; chr8:g.99817562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99817562T>G , CM000670.2:g.99817562T>G	GRCh38
NC_000008.10:g.100829790T>G , CM000670.1:g.100829790T>G	GRCh37
NC_000008.9:g.100898966T>G	NCBI36
NG_007098.2:g.809297T>G , LRG_351:g.809297T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8195T>G	ENSP00000507923.1:p.Ile2732Ser
ENST00000682358.1:n.8265T>G
ENST00000683334.1:c.*3877T>G	ENSP00000507369.1:n.*3877T>G
ENST00000357162.7:c.8120T>G MANE Select	ENSP00000349685.2:p.Ile2707Ser
ENST00000358544.7:c.8195T>G MANE Plus Clinical	ENSP00000351346.2:p.Ile2732Ser
ENST00000357162.6:c.8120T>G	ENSP00000349685.2:p.Ile2707Ser
ENST00000358544.6:c.8195T>G	ENSP00000351346.2:p.Ile2732Ser
NM_017890.4:c.8195T>G , LRG_351t1:c.8195T>G	NP_060360.3:p.Ile2732Ser
NM_152564.4:c.8120T>G , LRG_351t2:c.8120T>G	NP_689777.3:p.Ile2707Ser
XM_005250800.2:c.8195T>G	XP_005250857.1:p.Ile2732Ser
XM_005250801.3:c.8195T>G	XP_005250858.1:p.Ile2732Ser
XM_011516848.1:c.8192T>G	XP_011515150.1:p.Ile2731Ser
XM_011516849.1:c.8117T>G	XP_011515151.1:p.Ile2706Ser
XM_011516850.1:c.7817T>G	XP_011515152.1:p.Ile2606Ser
XM_011516851.1:c.5081T>G	XP_011515153.1:p.Ile1694Ser
XM_011516852.1:c.5081T>G	XP_011515154.1:p.Ile1694Ser
XM_011516854.1:c.3974T>G	XP_011515156.1:p.Ile1325Ser
XM_005250800.3:c.8195T>G	XP_005250857.1:p.Ile2732Ser
XM_005250801.5:c.8195T>G	XP_005250858.1:p.Ile2732Ser
XM_011516848.2:c.8192T>G	XP_011515150.1:p.Ile2731Ser
XM_011516849.2:c.8117T>G	XP_011515151.1:p.Ile2706Ser
XM_011516850.2:c.7817T>G	XP_011515152.1:p.Ile2606Ser
XM_011516851.2:c.5081T>G	XP_011515153.1:p.Ile1694Ser
XM_011516852.2:c.5081T>G	XP_011515154.1:p.Ile1694Ser
XM_011516854.2:c.3974T>G	XP_011515156.1:p.Ile1325Ser
XM_017013109.1:c.8000T>G	XP_016868598.1:p.Ile2667Ser
XM_017013111.1:c.5081T>G	XP_016868600.1:p.Ile1694Ser
XM_017013112.1:c.3752T>G	XP_016868601.1:p.Ile1251Ser
XM_024447074.1:c.6980T>G	XP_024302842.1:p.Ile2327Ser
NM_017890.5:c.8195T>G MANE Plus Clinical	NP_060360.3:p.Ile2732Ser
NM_152564.5:c.8120T>G MANE Select	NP_689777.3:p.Ile2707Ser