Canonical Allele Identifier: CA371874445

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100779144C>A (hg19) ; chr8:g.99766916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766916C>A , CM000670.2:g.99766916C>A	GRCh38
NC_000008.10:g.100779144C>A , CM000670.1:g.100779144C>A	GRCh37
NC_000008.9:g.100848320C>A	NCBI36
NG_007098.2:g.758651C>A , LRG_351:g.758651C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7268C>A	ENSP00000507923.1:p.Ser2423Ter
ENST00000682358.1:n.7338C>A
ENST00000683334.1:c.*2950C>A	ENSP00000507369.1:n.*2950C>A
ENST00000357162.7:c.7193C>A MANE Select	ENSP00000349685.2:p.Ser2398Ter
ENST00000358544.7:c.7268C>A MANE Plus Clinical	ENSP00000351346.2:p.Ser2423Ter
ENST00000357162.6:c.7193C>A	ENSP00000349685.2:p.Ser2398Ter
ENST00000358544.6:c.7268C>A	ENSP00000351346.2:p.Ser2423Ter
ENST00000518569.1:n.323C>A
NM_017890.4:c.7268C>A , LRG_351t1:c.7268C>A	NP_060360.3:p.Ser2423Ter
NM_152564.4:c.7193C>A , LRG_351t2:c.7193C>A	NP_689777.3:p.Ser2398Ter
XM_005250800.2:c.7268C>A	XP_005250857.1:p.Ser2423Ter
XM_005250801.3:c.7268C>A	XP_005250858.1:p.Ser2423Ter
XM_011516848.1:c.7265C>A	XP_011515150.1:p.Ser2422Ter
XM_011516849.1:c.7190C>A	XP_011515151.1:p.Ser2397Ter
XM_011516850.1:c.6890C>A	XP_011515152.1:p.Ser2297Ter
XM_011516851.1:c.4154C>A	XP_011515153.1:p.Ser1385Ter
XM_011516852.1:c.4154C>A	XP_011515154.1:p.Ser1385Ter
XM_011516853.1:c.7268C>A	XP_011515155.1:p.Ser2423Ter
XM_011516854.1:c.3047C>A	XP_011515156.1:p.Ser1016Ter
XR_928446.1:n.2065+3772G>T
XM_005250800.3:c.7268C>A	XP_005250857.1:p.Ser2423Ter
XM_005250801.5:c.7268C>A	XP_005250858.1:p.Ser2423Ter
XM_011516848.2:c.7265C>A	XP_011515150.1:p.Ser2422Ter
XM_011516849.2:c.7190C>A	XP_011515151.1:p.Ser2397Ter
XM_011516850.2:c.6890C>A	XP_011515152.1:p.Ser2297Ter
XM_011516851.2:c.4154C>A	XP_011515153.1:p.Ser1385Ter
XM_011516852.2:c.4154C>A	XP_011515154.1:p.Ser1385Ter
XM_011516853.2:c.7268C>A	XP_011515155.1:p.Ser2423Ter
XM_011516854.2:c.3047C>A	XP_011515156.1:p.Ser1016Ter
XM_017013109.1:c.7073C>A	XP_016868598.1:p.Ser2358Ter
XM_017013111.1:c.4154C>A	XP_016868600.1:p.Ser1385Ter
XM_017013112.1:c.2825C>A	XP_016868601.1:p.Ser942Ter
XM_024447074.1:c.6053C>A	XP_024302842.1:p.Ser2018Ter
NM_017890.5:c.7268C>A MANE Plus Clinical	NP_060360.3:p.Ser2423Ter
NM_152564.5:c.7193C>A MANE Select	NP_689777.3:p.Ser2398Ter