Canonical Allele Identifier: CA371772356

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100829789A>T (hg19) ; chr8:g.99817561A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99817561A>T , CM000670.2:g.99817561A>T	GRCh38
NC_000008.10:g.100829789A>T , CM000670.1:g.100829789A>T	GRCh37
NC_000008.9:g.100898965A>T	NCBI36
NG_007098.2:g.809296A>T , LRG_351:g.809296A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.8194A>T	ENSP00000507923.1:p.Ile2732Phe
ENST00000682358.1:n.8264A>T
ENST00000683334.1:c.*3876A>T	ENSP00000507369.1:n.*3876A>T
ENST00000357162.7:c.8119A>T MANE Select	ENSP00000349685.2:p.Ile2707Phe
ENST00000358544.7:c.8194A>T MANE Plus Clinical	ENSP00000351346.2:p.Ile2732Phe
ENST00000357162.6:c.8119A>T	ENSP00000349685.2:p.Ile2707Phe
ENST00000358544.6:c.8194A>T	ENSP00000351346.2:p.Ile2732Phe
NM_017890.4:c.8194A>T , LRG_351t1:c.8194A>T	NP_060360.3:p.Ile2732Phe
NM_152564.4:c.8119A>T , LRG_351t2:c.8119A>T	NP_689777.3:p.Ile2707Phe
XM_005250800.2:c.8194A>T	XP_005250857.1:p.Ile2732Phe
XM_005250801.3:c.8194A>T	XP_005250858.1:p.Ile2732Phe
XM_011516848.1:c.8191A>T	XP_011515150.1:p.Ile2731Phe
XM_011516849.1:c.8116A>T	XP_011515151.1:p.Ile2706Phe
XM_011516850.1:c.7816A>T	XP_011515152.1:p.Ile2606Phe
XM_011516851.1:c.5080A>T	XP_011515153.1:p.Ile1694Phe
XM_011516852.1:c.5080A>T	XP_011515154.1:p.Ile1694Phe
XM_011516854.1:c.3973A>T	XP_011515156.1:p.Ile1325Phe
XM_005250800.3:c.8194A>T	XP_005250857.1:p.Ile2732Phe
XM_005250801.5:c.8194A>T	XP_005250858.1:p.Ile2732Phe
XM_011516848.2:c.8191A>T	XP_011515150.1:p.Ile2731Phe
XM_011516849.2:c.8116A>T	XP_011515151.1:p.Ile2706Phe
XM_011516850.2:c.7816A>T	XP_011515152.1:p.Ile2606Phe
XM_011516851.2:c.5080A>T	XP_011515153.1:p.Ile1694Phe
XM_011516852.2:c.5080A>T	XP_011515154.1:p.Ile1694Phe
XM_011516854.2:c.3973A>T	XP_011515156.1:p.Ile1325Phe
XM_017013109.1:c.7999A>T	XP_016868598.1:p.Ile2667Phe
XM_017013111.1:c.5080A>T	XP_016868600.1:p.Ile1694Phe
XM_017013112.1:c.3751A>T	XP_016868601.1:p.Ile1251Phe
XM_024447074.1:c.6979A>T	XP_024302842.1:p.Ile2327Phe
NM_017890.5:c.8194A>T MANE Plus Clinical	NP_060360.3:p.Ile2732Phe
NM_152564.5:c.8119A>T MANE Select	NP_689777.3:p.Ile2707Phe