Canonical Allele Identifier: CA371872701

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100654324T>C (hg19) ; chr8:g.99642096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642096T>C , CM000670.2:g.99642096T>C	GRCh38
NC_000008.10:g.100654324T>C , CM000670.1:g.100654324T>C	GRCh37
NC_000008.9:g.100723500T>C	NCBI36
NG_007098.2:g.633831T>C , LRG_351:g.633831T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5581T>C	ENSP00000507923.1:p.Ser1861Pro
ENST00000682358.1:n.5651T>C
ENST00000683334.1:c.*1263T>C	ENSP00000507369.1:n.*1263T>C
ENST00000357162.7:c.5506T>C MANE Select	ENSP00000349685.2:p.Ser1836Pro
ENST00000358544.7:c.5581T>C MANE Plus Clinical	ENSP00000351346.2:p.Ser1861Pro
ENST00000357162.6:c.5506T>C	ENSP00000349685.2:p.Ser1836Pro
ENST00000358544.6:c.5581T>C	ENSP00000351346.2:p.Ser1861Pro
NM_017890.4:c.5581T>C , LRG_351t1:c.5581T>C	NP_060360.3:p.Ser1861Pro
NM_152564.4:c.5506T>C , LRG_351t2:c.5506T>C	NP_689777.3:p.Ser1836Pro
XM_005250800.2:c.5581T>C	XP_005250857.1:p.Ser1861Pro
XM_005250801.3:c.5581T>C	XP_005250858.1:p.Ser1861Pro
XM_011516848.1:c.5578T>C	XP_011515150.1:p.Ser1860Pro
XM_011516849.1:c.5503T>C	XP_011515151.1:p.Ser1835Pro
XM_011516850.1:c.5203T>C	XP_011515152.1:p.Ser1735Pro
XM_011516851.1:c.2467T>C	XP_011515153.1:p.Ser823Pro
XM_011516852.1:c.2467T>C	XP_011515154.1:p.Ser823Pro
XM_011516853.1:c.5581T>C	XP_011515155.1:p.Ser1861Pro
XM_011516854.1:c.1360T>C	XP_011515156.1:p.Ser454Pro
XM_005250800.3:c.5581T>C	XP_005250857.1:p.Ser1861Pro
XM_005250801.5:c.5581T>C	XP_005250858.1:p.Ser1861Pro
XM_011516848.2:c.5578T>C	XP_011515150.1:p.Ser1860Pro
XM_011516849.2:c.5503T>C	XP_011515151.1:p.Ser1835Pro
XM_011516850.2:c.5203T>C	XP_011515152.1:p.Ser1735Pro
XM_011516851.2:c.2467T>C	XP_011515153.1:p.Ser823Pro
XM_011516852.2:c.2467T>C	XP_011515154.1:p.Ser823Pro
XM_011516853.2:c.5581T>C	XP_011515155.1:p.Ser1861Pro
XM_011516854.2:c.1360T>C	XP_011515156.1:p.Ser454Pro
XM_017013109.1:c.5386T>C	XP_016868598.1:p.Ser1796Pro
XM_017013111.1:c.2467T>C	XP_016868600.1:p.Ser823Pro
XM_017013112.1:c.1138T>C	XP_016868601.1:p.Ser380Pro
XM_024447074.1:c.4366T>C	XP_024302842.1:p.Ser1456Pro
XR_001745482.2:n.5542T>C
NM_017890.5:c.5581T>C MANE Plus Clinical	NP_060360.3:p.Ser1861Pro
NM_152564.5:c.5506T>C MANE Select	NP_689777.3:p.Ser1836Pro