Canonical Allele Identifier: CA371793731

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100883102G>T (hg19) ; chr8:g.99870874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99870874G>T , CM000670.2:g.99870874G>T	GRCh38
NC_000008.10:g.100883102G>T , CM000670.1:g.100883102G>T	GRCh37
NC_000008.9:g.100952278G>T	NCBI36
NG_007098.2:g.862609G>T , LRG_351:g.862609G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*651G>T	ENSP00000507923.1:n.*651G>T
ENST00000682358.1:n.11627G>T
ENST00000683334.1:c.*7239G>T	ENSP00000507369.1:n.*7239G>T
ENST00000357162.7:c.11482G>T MANE Select	ENSP00000349685.2:p.Val3828Phe
ENST00000358544.7:c.11557G>T MANE Plus Clinical	ENSP00000351346.2:p.Val3853Phe
ENST00000357162.6:c.11482G>T	ENSP00000349685.2:p.Val3828Phe
ENST00000358544.6:c.11557G>T	ENSP00000351346.2:p.Val3853Phe
ENST00000493587.1:n.499G>T
NM_017890.4:c.11557G>T , LRG_351t1:c.11557G>T	NP_060360.3:p.Val3853Phe
NM_152564.4:c.11482G>T , LRG_351t2:c.11482G>T	NP_689777.3:p.Val3828Phe
XM_005250800.2:c.11557G>T	XP_005250857.1:p.Val3853Phe
XM_005250801.3:c.11557G>T	XP_005250858.1:p.Val3853Phe
XM_011516848.1:c.11554G>T	XP_011515150.1:p.Val3852Phe
XM_011516849.1:c.11479G>T	XP_011515151.1:p.Val3827Phe
XM_011516850.1:c.11179G>T	XP_011515152.1:p.Val3727Phe
XM_011516851.1:c.8443G>T	XP_011515153.1:p.Val2815Phe
XM_011516852.1:c.8443G>T	XP_011515154.1:p.Val2815Phe
XM_011516854.1:c.7336G>T	XP_011515156.1:p.Val2446Phe
XM_005250800.3:c.11557G>T	XP_005250857.1:p.Val3853Phe
XM_005250801.5:c.11557G>T	XP_005250858.1:p.Val3853Phe
XM_011516848.2:c.11554G>T	XP_011515150.1:p.Val3852Phe
XM_011516849.2:c.11479G>T	XP_011515151.1:p.Val3827Phe
XM_011516850.2:c.11179G>T	XP_011515152.1:p.Val3727Phe
XM_011516851.2:c.8443G>T	XP_011515153.1:p.Val2815Phe
XM_011516852.2:c.8443G>T	XP_011515154.1:p.Val2815Phe
XM_011516854.2:c.7336G>T	XP_011515156.1:p.Val2446Phe
XM_017013109.1:c.11362G>T	XP_016868598.1:p.Val3788Phe
XM_017013111.1:c.8443G>T	XP_016868600.1:p.Val2815Phe
XM_017013112.1:c.7114G>T	XP_016868601.1:p.Val2372Phe
XM_024447074.1:c.10342G>T	XP_024302842.1:p.Val3448Phe
NM_017890.5:c.11557G>T MANE Plus Clinical	NP_060360.3:p.Val3853Phe
NM_152564.5:c.11482G>T MANE Select	NP_689777.3:p.Val3828Phe