Canonical Allele Identifier: CA371790657

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100874119G>T (hg19) ; chr8:g.99861891G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861891G>T , CM000670.2:g.99861891G>T	GRCh38
NC_000008.10:g.100874119G>T , CM000670.1:g.100874119G>T	GRCh37
NC_000008.9:g.100943295G>T	NCBI36
NG_007098.2:g.853626G>T , LRG_351:g.853626G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*329G>T	ENSP00000507923.1:n.*329G>T
ENST00000682358.1:n.11305G>T
ENST00000683334.1:c.*6917G>T	ENSP00000507369.1:n.*6917G>T
ENST00000357162.7:c.11160G>T MANE Select	ENSP00000349685.2:p.Glu3720Asp
ENST00000358544.7:c.11235G>T MANE Plus Clinical	ENSP00000351346.2:p.Glu3745Asp
ENST00000357162.6:c.11160G>T	ENSP00000349685.2:p.Glu3720Asp
ENST00000358544.6:c.11235G>T	ENSP00000351346.2:p.Glu3745Asp
NM_017890.4:c.11235G>T , LRG_351t1:c.11235G>T	NP_060360.3:p.Glu3745Asp
NM_152564.4:c.11160G>T , LRG_351t2:c.11160G>T	NP_689777.3:p.Glu3720Asp
XM_005250800.2:c.11235G>T	XP_005250857.1:p.Glu3745Asp
XM_005250801.3:c.11235G>T	XP_005250858.1:p.Glu3745Asp
XM_011516848.1:c.11232G>T	XP_011515150.1:p.Glu3744Asp
XM_011516849.1:c.11157G>T	XP_011515151.1:p.Glu3719Asp
XM_011516850.1:c.10857G>T	XP_011515152.1:p.Glu3619Asp
XM_011516851.1:c.8121G>T	XP_011515153.1:p.Glu2707Asp
XM_011516852.1:c.8121G>T	XP_011515154.1:p.Glu2707Asp
XM_011516854.1:c.7014G>T	XP_011515156.1:p.Glu2338Asp
XM_005250800.3:c.11235G>T	XP_005250857.1:p.Glu3745Asp
XM_005250801.5:c.11235G>T	XP_005250858.1:p.Glu3745Asp
XM_011516848.2:c.11232G>T	XP_011515150.1:p.Glu3744Asp
XM_011516849.2:c.11157G>T	XP_011515151.1:p.Glu3719Asp
XM_011516850.2:c.10857G>T	XP_011515152.1:p.Glu3619Asp
XM_011516851.2:c.8121G>T	XP_011515153.1:p.Glu2707Asp
XM_011516852.2:c.8121G>T	XP_011515154.1:p.Glu2707Asp
XM_011516854.2:c.7014G>T	XP_011515156.1:p.Glu2338Asp
XM_017013109.1:c.11040G>T	XP_016868598.1:p.Glu3680Asp
XM_017013111.1:c.8121G>T	XP_016868600.1:p.Glu2707Asp
XM_017013112.1:c.6792G>T	XP_016868601.1:p.Glu2264Asp
XM_024447074.1:c.10020G>T	XP_024302842.1:p.Glu3340Asp
NM_017890.5:c.11235G>T MANE Plus Clinical	NP_060360.3:p.Glu3745Asp
NM_152564.5:c.11160G>T MANE Select	NP_689777.3:p.Glu3720Asp