Canonical Allele Identifier: CA371772373

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100829793T>C (hg19) ; chr8:g.99817565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99817565T>C , CM000670.2:g.99817565T>C	GRCh38
NC_000008.10:g.100829793T>C , CM000670.1:g.100829793T>C	GRCh37
NC_000008.9:g.100898969T>C	NCBI36
NG_007098.2:g.809300T>C , LRG_351:g.809300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8198T>C	ENSP00000507923.1:p.Ile2733Thr
ENST00000682358.1:n.8268T>C
ENST00000683334.1:c.*3880T>C	ENSP00000507369.1:n.*3880T>C
ENST00000357162.7:c.8123T>C MANE Select	ENSP00000349685.2:p.Ile2708Thr
ENST00000358544.7:c.8198T>C MANE Plus Clinical	ENSP00000351346.2:p.Ile2733Thr
ENST00000357162.6:c.8123T>C	ENSP00000349685.2:p.Ile2708Thr
ENST00000358544.6:c.8198T>C	ENSP00000351346.2:p.Ile2733Thr
NM_017890.4:c.8198T>C , LRG_351t1:c.8198T>C	NP_060360.3:p.Ile2733Thr
NM_152564.4:c.8123T>C , LRG_351t2:c.8123T>C	NP_689777.3:p.Ile2708Thr
XM_005250800.2:c.8198T>C	XP_005250857.1:p.Ile2733Thr
XM_005250801.3:c.8198T>C	XP_005250858.1:p.Ile2733Thr
XM_011516848.1:c.8195T>C	XP_011515150.1:p.Ile2732Thr
XM_011516849.1:c.8120T>C	XP_011515151.1:p.Ile2707Thr
XM_011516850.1:c.7820T>C	XP_011515152.1:p.Ile2607Thr
XM_011516851.1:c.5084T>C	XP_011515153.1:p.Ile1695Thr
XM_011516852.1:c.5084T>C	XP_011515154.1:p.Ile1695Thr
XM_011516854.1:c.3977T>C	XP_011515156.1:p.Ile1326Thr
XM_005250800.3:c.8198T>C	XP_005250857.1:p.Ile2733Thr
XM_005250801.5:c.8198T>C	XP_005250858.1:p.Ile2733Thr
XM_011516848.2:c.8195T>C	XP_011515150.1:p.Ile2732Thr
XM_011516849.2:c.8120T>C	XP_011515151.1:p.Ile2707Thr
XM_011516850.2:c.7820T>C	XP_011515152.1:p.Ile2607Thr
XM_011516851.2:c.5084T>C	XP_011515153.1:p.Ile1695Thr
XM_011516852.2:c.5084T>C	XP_011515154.1:p.Ile1695Thr
XM_011516854.2:c.3977T>C	XP_011515156.1:p.Ile1326Thr
XM_017013109.1:c.8003T>C	XP_016868598.1:p.Ile2668Thr
XM_017013111.1:c.5084T>C	XP_016868600.1:p.Ile1695Thr
XM_017013112.1:c.3755T>C	XP_016868601.1:p.Ile1252Thr
XM_024447074.1:c.6983T>C	XP_024302842.1:p.Ile2328Thr
NM_017890.5:c.8198T>C MANE Plus Clinical	NP_060360.3:p.Ile2733Thr
NM_152564.5:c.8123T>C MANE Select	NP_689777.3:p.Ile2708Thr