Canonical Allele Identifier: CA2580844805

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99820031A= , CM000670.2:g.99820031A=	GRCh38
NC_000008.10:g.100832259A= , CM000670.1:g.100832259A=	GRCh37
NC_000008.9:g.100901435A=	NCBI36
NG_007098.2:g.811766A= , LRG_351:g.811766A=

Transcript Alleles

HGVS	Amino-acid Change
NM_152564.5:c.8903A= MANE Select	NP_689777.3:p.Asn2968=
ENST00000357162.7:c.8903A= MANE Select	ENSP00000349685.2:p.Asn2968=
NM_017890.5:c.8978A= MANE Plus Clinical	NP_060360.3:p.Asn2993=
ENST00000358544.7:c.8978A= MANE Plus Clinical	ENSP00000351346.2:p.Asn2993=
NM_017890.4:c.8978A= , LRG_351t1:c.8978A=	NP_060360.3:p.Asn2993=
NM_152564.4:c.8903A= , LRG_351t2:c.8903A=	NP_689777.3:p.Asn2968=
ENST00000357162.6:c.8903A=	ENSP00000349685.2:p.Asn2968=
ENST00000358544.6:c.8978A=	ENSP00000351346.2:p.Asn2993=
ENST00000682153.1:c.8978A=	ENSP00000507923.1:p.Asn2993=
ENST00000682358.1:n.9048A=
ENST00000683334.1:c.*4660A=	ENSP00000507369.1:n.*4660A=
XM_005250800.2:c.8978A=	XP_005250857.1:p.Asn2993=
XM_005250800.3:c.8978A=	XP_005250857.1:p.Asn2993=
XM_005250801.3:c.8978A=	XP_005250858.1:p.Asn2993=
XM_005250801.5:c.8978A=	XP_005250858.1:p.Asn2993=
XM_011516848.1:c.8975A=	XP_011515150.1:p.Asn2992=
XM_011516848.2:c.8975A=	XP_011515150.1:p.Asn2992=
XM_011516849.1:c.8900A=	XP_011515151.1:p.Asn2967=
XM_011516849.2:c.8900A=	XP_011515151.1:p.Asn2967=
XM_011516850.1:c.8600A=	XP_011515152.1:p.Asn2867=
XM_011516850.2:c.8600A=	XP_011515152.1:p.Asn2867=
XM_011516851.1:c.5864A=	XP_011515153.1:p.Asn1955=
XM_011516851.2:c.5864A=	XP_011515153.1:p.Asn1955=
XM_011516852.1:c.5864A=	XP_011515154.1:p.Asn1955=
XM_011516852.2:c.5864A=	XP_011515154.1:p.Asn1955=
XM_011516854.1:c.4757A=	XP_011515156.1:p.Asn1586=
XM_011516854.2:c.4757A=	XP_011515156.1:p.Asn1586=
XM_017013109.1:c.8783A=	XP_016868598.1:p.Asn2928=
XM_017013111.1:c.5864A=	XP_016868600.1:p.Asn1955=
XM_017013112.1:c.4535A=	XP_016868601.1:p.Asn1512=
XM_024447074.1:c.7763A=	XP_024302842.1:p.Asn2588=