Canonical Allele Identifier: CA371792368

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880663G>T (hg19) ; chr8:g.99868435G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868435G>T , CM000670.2:g.99868435G>T	GRCh38
NC_000008.10:g.100880663G>T , CM000670.1:g.100880663G>T	GRCh37
NC_000008.9:g.100949839G>T	NCBI36
NG_007098.2:g.860170G>T , LRG_351:g.860170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*531G>T	ENSP00000507923.1:n.*531G>T
ENST00000682358.1:n.11507G>T
ENST00000683334.1:c.*7119G>T	ENSP00000507369.1:n.*7119G>T
ENST00000357162.7:c.11362G>T MANE Select	ENSP00000349685.2:p.Ala3788Ser
ENST00000358544.7:c.11437G>T MANE Plus Clinical	ENSP00000351346.2:p.Ala3813Ser
ENST00000357162.6:c.11362G>T	ENSP00000349685.2:p.Ala3788Ser
ENST00000358544.6:c.11437G>T	ENSP00000351346.2:p.Ala3813Ser
ENST00000493587.1:n.379G>T
NM_017890.4:c.11437G>T , LRG_351t1:c.11437G>T	NP_060360.3:p.Ala3813Ser
NM_152564.4:c.11362G>T , LRG_351t2:c.11362G>T	NP_689777.3:p.Ala3788Ser
XM_005250800.2:c.11437G>T	XP_005250857.1:p.Ala3813Ser
XM_005250801.3:c.11437G>T	XP_005250858.1:p.Ala3813Ser
XM_011516848.1:c.11434G>T	XP_011515150.1:p.Ala3812Ser
XM_011516849.1:c.11359G>T	XP_011515151.1:p.Ala3787Ser
XM_011516850.1:c.11059G>T	XP_011515152.1:p.Ala3687Ser
XM_011516851.1:c.8323G>T	XP_011515153.1:p.Ala2775Ser
XM_011516852.1:c.8323G>T	XP_011515154.1:p.Ala2775Ser
XM_011516854.1:c.7216G>T	XP_011515156.1:p.Ala2406Ser
XM_005250800.3:c.11437G>T	XP_005250857.1:p.Ala3813Ser
XM_005250801.5:c.11437G>T	XP_005250858.1:p.Ala3813Ser
XM_011516848.2:c.11434G>T	XP_011515150.1:p.Ala3812Ser
XM_011516849.2:c.11359G>T	XP_011515151.1:p.Ala3787Ser
XM_011516850.2:c.11059G>T	XP_011515152.1:p.Ala3687Ser
XM_011516851.2:c.8323G>T	XP_011515153.1:p.Ala2775Ser
XM_011516852.2:c.8323G>T	XP_011515154.1:p.Ala2775Ser
XM_011516854.2:c.7216G>T	XP_011515156.1:p.Ala2406Ser
XM_017013109.1:c.11242G>T	XP_016868598.1:p.Ala3748Ser
XM_017013111.1:c.8323G>T	XP_016868600.1:p.Ala2775Ser
XM_017013112.1:c.6994G>T	XP_016868601.1:p.Ala2332Ser
XM_024447074.1:c.10222G>T	XP_024302842.1:p.Ala3408Ser
NM_017890.5:c.11437G>T MANE Plus Clinical	NP_060360.3:p.Ala3813Ser
NM_152564.5:c.11362G>T MANE Select	NP_689777.3:p.Ala3788Ser