Canonical Allele Identifier: CA371872599

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100654277G>C (hg19) ; chr8:g.99642049G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642049G>C , CM000670.2:g.99642049G>C	GRCh38
NC_000008.10:g.100654277G>C , CM000670.1:g.100654277G>C	GRCh37
NC_000008.9:g.100723453G>C	NCBI36
NG_007098.2:g.633784G>C , LRG_351:g.633784G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5534G>C	ENSP00000507923.1:p.Arg1845Thr
ENST00000682358.1:n.5604G>C
ENST00000683334.1:c.*1216G>C	ENSP00000507369.1:n.*1216G>C
ENST00000357162.7:c.5459G>C MANE Select	ENSP00000349685.2:p.Arg1820Thr
ENST00000358544.7:c.5534G>C MANE Plus Clinical	ENSP00000351346.2:p.Arg1845Thr
ENST00000357162.6:c.5459G>C	ENSP00000349685.2:p.Arg1820Thr
ENST00000358544.6:c.5534G>C	ENSP00000351346.2:p.Arg1845Thr
NM_017890.4:c.5534G>C , LRG_351t1:c.5534G>C	NP_060360.3:p.Arg1845Thr
NM_152564.4:c.5459G>C , LRG_351t2:c.5459G>C	NP_689777.3:p.Arg1820Thr
XM_005250800.2:c.5534G>C	XP_005250857.1:p.Arg1845Thr
XM_005250801.3:c.5534G>C	XP_005250858.1:p.Arg1845Thr
XM_011516848.1:c.5531G>C	XP_011515150.1:p.Arg1844Thr
XM_011516849.1:c.5456G>C	XP_011515151.1:p.Arg1819Thr
XM_011516850.1:c.5156G>C	XP_011515152.1:p.Arg1719Thr
XM_011516851.1:c.2420G>C	XP_011515153.1:p.Arg807Thr
XM_011516852.1:c.2420G>C	XP_011515154.1:p.Arg807Thr
XM_011516853.1:c.5534G>C	XP_011515155.1:p.Arg1845Thr
XM_011516854.1:c.1313G>C	XP_011515156.1:p.Arg438Thr
XM_005250800.3:c.5534G>C	XP_005250857.1:p.Arg1845Thr
XM_005250801.5:c.5534G>C	XP_005250858.1:p.Arg1845Thr
XM_011516848.2:c.5531G>C	XP_011515150.1:p.Arg1844Thr
XM_011516849.2:c.5456G>C	XP_011515151.1:p.Arg1819Thr
XM_011516850.2:c.5156G>C	XP_011515152.1:p.Arg1719Thr
XM_011516851.2:c.2420G>C	XP_011515153.1:p.Arg807Thr
XM_011516852.2:c.2420G>C	XP_011515154.1:p.Arg807Thr
XM_011516853.2:c.5534G>C	XP_011515155.1:p.Arg1845Thr
XM_011516854.2:c.1313G>C	XP_011515156.1:p.Arg438Thr
XM_017013109.1:c.5339G>C	XP_016868598.1:p.Arg1780Thr
XM_017013111.1:c.2420G>C	XP_016868600.1:p.Arg807Thr
XM_017013112.1:c.1091G>C	XP_016868601.1:p.Arg364Thr
XM_024447074.1:c.4319G>C	XP_024302842.1:p.Arg1440Thr
XR_001745482.2:n.5495G>C
NM_017890.5:c.5534G>C MANE Plus Clinical	NP_060360.3:p.Arg1845Thr
NM_152564.5:c.5459G>C MANE Select	NP_689777.3:p.Arg1820Thr