Canonical Allele Identifier: CA462338084

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100874086C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861858C>T , CM000670.2:g.99861858C>T	GRCh38
NC_000008.10:g.100874086C>T , CM000670.1:g.100874086C>T	GRCh37
NC_000008.9:g.100943262C>T	NCBI36
NG_007098.2:g.853593C>T , LRG_351:g.853593C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*296C>T	ENSP00000507923.1:n.*296C>T
ENST00000682358.1:n.11272C>T
ENST00000683334.1:c.*6884C>T	ENSP00000507369.1:n.*6884C>T
ENST00000357162.7:c.11127C>T MANE Select	ENSP00000349685.2:p.Asn3709=
ENST00000358544.7:c.11202C>T MANE Plus Clinical	ENSP00000351346.2:p.Asn3734=
ENST00000357162.6:c.11127C>T	ENSP00000349685.2:p.Asn3709=
ENST00000358544.6:c.11202C>T	ENSP00000351346.2:p.Asn3734=
NM_017890.4:c.11202C>T , LRG_351t1:c.11202C>T	NP_060360.3:p.Asn3734=
NM_152564.4:c.11127C>T , LRG_351t2:c.11127C>T	NP_689777.3:p.Asn3709=
XM_005250800.2:c.11202C>T	XP_005250857.1:p.Asn3734=
XM_005250801.3:c.11202C>T	XP_005250858.1:p.Asn3734=
XM_011516848.1:c.11199C>T	XP_011515150.1:p.Asn3733=
XM_011516849.1:c.11124C>T	XP_011515151.1:p.Asn3708=
XM_011516850.1:c.10824C>T	XP_011515152.1:p.Asn3608=
XM_011516851.1:c.8088C>T	XP_011515153.1:p.Asn2696=
XM_011516852.1:c.8088C>T	XP_011515154.1:p.Asn2696=
XM_011516854.1:c.6981C>T	XP_011515156.1:p.Asn2327=
XM_005250800.3:c.11202C>T	XP_005250857.1:p.Asn3734=
XM_005250801.5:c.11202C>T	XP_005250858.1:p.Asn3734=
XM_011516848.2:c.11199C>T	XP_011515150.1:p.Asn3733=
XM_011516849.2:c.11124C>T	XP_011515151.1:p.Asn3708=
XM_011516850.2:c.10824C>T	XP_011515152.1:p.Asn3608=
XM_011516851.2:c.8088C>T	XP_011515153.1:p.Asn2696=
XM_011516852.2:c.8088C>T	XP_011515154.1:p.Asn2696=
XM_011516854.2:c.6981C>T	XP_011515156.1:p.Asn2327=
XM_017013109.1:c.11007C>T	XP_016868598.1:p.Asn3669=
XM_017013111.1:c.8088C>T	XP_016868600.1:p.Asn2696=
XM_017013112.1:c.6759C>T	XP_016868601.1:p.Asn2253=
XM_024447074.1:c.9987C>T	XP_024302842.1:p.Asn3329=
NM_017890.5:c.11202C>T MANE Plus Clinical	NP_060360.3:p.Asn3734=
NM_152564.5:c.11127C>T MANE Select	NP_689777.3:p.Asn3709=