Canonical Allele Identifier: CA371776461

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100831748A>T (hg19) ; chr8:g.99819520A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819520A>T , CM000670.2:g.99819520A>T	GRCh38
NC_000008.10:g.100831748A>T , CM000670.1:g.100831748A>T	GRCh37
NC_000008.9:g.100900924A>T	NCBI36
NG_007098.2:g.811255A>T , LRG_351:g.811255A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8805A>T	ENSP00000507923.1:p.Glu2935Asp
ENST00000682358.1:n.8875A>T
ENST00000683334.1:c.*4487A>T	ENSP00000507369.1:n.*4487A>T
ENST00000357162.7:c.8730A>T MANE Select	ENSP00000349685.2:p.Glu2910Asp
ENST00000358544.7:c.8805A>T MANE Plus Clinical	ENSP00000351346.2:p.Glu2935Asp
ENST00000357162.6:c.8730A>T	ENSP00000349685.2:p.Glu2910Asp
ENST00000358544.6:c.8805A>T	ENSP00000351346.2:p.Glu2935Asp
NM_017890.4:c.8805A>T , LRG_351t1:c.8805A>T	NP_060360.3:p.Glu2935Asp
NM_152564.4:c.8730A>T , LRG_351t2:c.8730A>T	NP_689777.3:p.Glu2910Asp
XM_005250800.2:c.8805A>T	XP_005250857.1:p.Glu2935Asp
XM_005250801.3:c.8805A>T	XP_005250858.1:p.Glu2935Asp
XM_011516848.1:c.8802A>T	XP_011515150.1:p.Glu2934Asp
XM_011516849.1:c.8727A>T	XP_011515151.1:p.Glu2909Asp
XM_011516850.1:c.8427A>T	XP_011515152.1:p.Glu2809Asp
XM_011516851.1:c.5691A>T	XP_011515153.1:p.Glu1897Asp
XM_011516852.1:c.5691A>T	XP_011515154.1:p.Glu1897Asp
XM_011516854.1:c.4584A>T	XP_011515156.1:p.Glu1528Asp
XM_005250800.3:c.8805A>T	XP_005250857.1:p.Glu2935Asp
XM_005250801.5:c.8805A>T	XP_005250858.1:p.Glu2935Asp
XM_011516848.2:c.8802A>T	XP_011515150.1:p.Glu2934Asp
XM_011516849.2:c.8727A>T	XP_011515151.1:p.Glu2909Asp
XM_011516850.2:c.8427A>T	XP_011515152.1:p.Glu2809Asp
XM_011516851.2:c.5691A>T	XP_011515153.1:p.Glu1897Asp
XM_011516852.2:c.5691A>T	XP_011515154.1:p.Glu1897Asp
XM_011516854.2:c.4584A>T	XP_011515156.1:p.Glu1528Asp
XM_017013109.1:c.8610A>T	XP_016868598.1:p.Glu2870Asp
XM_017013111.1:c.5691A>T	XP_016868600.1:p.Glu1897Asp
XM_017013112.1:c.4362A>T	XP_016868601.1:p.Glu1454Asp
XM_024447074.1:c.7590A>T	XP_024302842.1:p.Glu2530Asp
NM_017890.5:c.8805A>T MANE Plus Clinical	NP_060360.3:p.Glu2935Asp
NM_152564.5:c.8730A>T MANE Select	NP_689777.3:p.Glu2910Asp