Canonical Allele Identifier: CA462338030

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100874014A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861786A>T , CM000670.2:g.99861786A>T	GRCh38
NC_000008.10:g.100874014A>T , CM000670.1:g.100874014A>T	GRCh37
NC_000008.9:g.100943190A>T	NCBI36
NG_007098.2:g.853521A>T , LRG_351:g.853521A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*224A>T	ENSP00000507923.1:n.*224A>T
ENST00000682358.1:n.11200A>T
ENST00000683334.1:c.*6812A>T	ENSP00000507369.1:n.*6812A>T
ENST00000357162.7:c.11055A>T MANE Select	ENSP00000349685.2:p.Thr3685=
ENST00000358544.7:c.11130A>T MANE Plus Clinical	ENSP00000351346.2:p.Thr3710=
ENST00000357162.6:c.11055A>T	ENSP00000349685.2:p.Thr3685=
ENST00000358544.6:c.11130A>T	ENSP00000351346.2:p.Thr3710=
NM_017890.4:c.11130A>T , LRG_351t1:c.11130A>T	NP_060360.3:p.Thr3710=
NM_152564.4:c.11055A>T , LRG_351t2:c.11055A>T	NP_689777.3:p.Thr3685=
XM_005250800.2:c.11130A>T	XP_005250857.1:p.Thr3710=
XM_005250801.3:c.11130A>T	XP_005250858.1:p.Thr3710=
XM_011516848.1:c.11127A>T	XP_011515150.1:p.Thr3709=
XM_011516849.1:c.11052A>T	XP_011515151.1:p.Thr3684=
XM_011516850.1:c.10752A>T	XP_011515152.1:p.Thr3584=
XM_011516851.1:c.8016A>T	XP_011515153.1:p.Thr2672=
XM_011516852.1:c.8016A>T	XP_011515154.1:p.Thr2672=
XM_011516854.1:c.6909A>T	XP_011515156.1:p.Thr2303=
XM_005250800.3:c.11130A>T	XP_005250857.1:p.Thr3710=
XM_005250801.5:c.11130A>T	XP_005250858.1:p.Thr3710=
XM_011516848.2:c.11127A>T	XP_011515150.1:p.Thr3709=
XM_011516849.2:c.11052A>T	XP_011515151.1:p.Thr3684=
XM_011516850.2:c.10752A>T	XP_011515152.1:p.Thr3584=
XM_011516851.2:c.8016A>T	XP_011515153.1:p.Thr2672=
XM_011516852.2:c.8016A>T	XP_011515154.1:p.Thr2672=
XM_011516854.2:c.6909A>T	XP_011515156.1:p.Thr2303=
XM_017013109.1:c.10935A>T	XP_016868598.1:p.Thr3645=
XM_017013111.1:c.8016A>T	XP_016868600.1:p.Thr2672=
XM_017013112.1:c.6687A>T	XP_016868601.1:p.Thr2229=
XM_024447074.1:c.9915A>T	XP_024302842.1:p.Thr3305=
NM_017890.5:c.11130A>T MANE Plus Clinical	NP_060360.3:p.Thr3710=
NM_152564.5:c.11055A>T MANE Select	NP_689777.3:p.Thr3685=