Canonical Allele Identifier: CA4825149

Gene: VPS13B

Linked Data

• dbSNP Id: rs781272193
• ExAC: 8:100874086 C / A
• gnomAD v2: 8-100874086-C-A
• gnomAD v4: 8-99861858-C-A
• MyVariant Identifiers: chr8:g.100874086C>A (hg19) ; chr8:g.99861858C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*296C>A	ENSP00000507923.1:n.*296C>A
ENST00000682358.1:n.11272C>A
ENST00000683334.1:c.*6884C>A	ENSP00000507369.1:n.*6884C>A
ENST00000357162.7:c.11127C>A MANE Select	ENSP00000349685.2:p.Asn3709Lys
ENST00000358544.7:c.11202C>A MANE Plus Clinical	ENSP00000351346.2:p.Asn3734Lys
ENST00000357162.6:c.11127C>A	ENSP00000349685.2:p.Asn3709Lys
ENST00000358544.6:c.11202C>A	ENSP00000351346.2:p.Asn3734Lys
NM_017890.4:c.11202C>A , LRG_351t1:c.11202C>A	NP_060360.3:p.Asn3734Lys
NM_152564.4:c.11127C>A , LRG_351t2:c.11127C>A	NP_689777.3:p.Asn3709Lys
XM_005250800.2:c.11202C>A	XP_005250857.1:p.Asn3734Lys
XM_005250801.3:c.11202C>A	XP_005250858.1:p.Asn3734Lys
XM_011516848.1:c.11199C>A	XP_011515150.1:p.Asn3733Lys
XM_011516849.1:c.11124C>A	XP_011515151.1:p.Asn3708Lys
XM_011516850.1:c.10824C>A	XP_011515152.1:p.Asn3608Lys
XM_011516851.1:c.8088C>A	XP_011515153.1:p.Asn2696Lys
XM_011516852.1:c.8088C>A	XP_011515154.1:p.Asn2696Lys
XM_011516854.1:c.6981C>A	XP_011515156.1:p.Asn2327Lys
XM_005250800.3:c.11202C>A	XP_005250857.1:p.Asn3734Lys
XM_005250801.5:c.11202C>A	XP_005250858.1:p.Asn3734Lys
XM_011516848.2:c.11199C>A	XP_011515150.1:p.Asn3733Lys
XM_011516849.2:c.11124C>A	XP_011515151.1:p.Asn3708Lys
XM_011516850.2:c.10824C>A	XP_011515152.1:p.Asn3608Lys
XM_011516851.2:c.8088C>A	XP_011515153.1:p.Asn2696Lys
XM_011516852.2:c.8088C>A	XP_011515154.1:p.Asn2696Lys
XM_011516854.2:c.6981C>A	XP_011515156.1:p.Asn2327Lys
XM_017013109.1:c.11007C>A	XP_016868598.1:p.Asn3669Lys
XM_017013111.1:c.8088C>A	XP_016868600.1:p.Asn2696Lys
XM_017013112.1:c.6759C>A	XP_016868601.1:p.Asn2253Lys
XM_024447074.1:c.9987C>A	XP_024302842.1:p.Asn3329Lys
NM_017890.5:c.11202C>A MANE Plus Clinical	NP_060360.3:p.Asn3734Lys
NM_152564.5:c.11127C>A MANE Select	NP_689777.3:p.Asn3709Lys