Canonical Allele Identifier: CA371782837

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100847531C>T (hg19) ; chr8:g.99835303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835303C>T , CM000670.2:g.99835303C>T	GRCh38
NC_000008.10:g.100847531C>T , CM000670.1:g.100847531C>T	GRCh37
NC_000008.9:g.100916707C>T	NCBI36
NG_007098.2:g.827038C>T , LRG_351:g.827038C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.9796C>T	ENSP00000507923.1:p.Leu3266Phe
ENST00000682358.1:n.9866C>T
ENST00000683334.1:c.*5478C>T	ENSP00000507369.1:n.*5478C>T
ENST00000357162.7:c.9721C>T MANE Select	ENSP00000349685.2:p.Leu3241Phe
ENST00000358544.7:c.9796C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu3266Phe
ENST00000357162.6:c.9721C>T	ENSP00000349685.2:p.Leu3241Phe
ENST00000358544.6:c.9796C>T	ENSP00000351346.2:p.Leu3266Phe
NM_017890.4:c.9796C>T , LRG_351t1:c.9796C>T	NP_060360.3:p.Leu3266Phe
NM_152564.4:c.9721C>T , LRG_351t2:c.9721C>T	NP_689777.3:p.Leu3241Phe
XM_005250800.2:c.9796C>T	XP_005250857.1:p.Leu3266Phe
XM_005250801.3:c.9796C>T	XP_005250858.1:p.Leu3266Phe
XM_011516848.1:c.9793C>T	XP_011515150.1:p.Leu3265Phe
XM_011516849.1:c.9718C>T	XP_011515151.1:p.Leu3240Phe
XM_011516850.1:c.9418C>T	XP_011515152.1:p.Leu3140Phe
XM_011516851.1:c.6682C>T	XP_011515153.1:p.Leu2228Phe
XM_011516852.1:c.6682C>T	XP_011515154.1:p.Leu2228Phe
XM_011516854.1:c.5575C>T	XP_011515156.1:p.Leu1859Phe
XM_005250800.3:c.9796C>T	XP_005250857.1:p.Leu3266Phe
XM_005250801.5:c.9796C>T	XP_005250858.1:p.Leu3266Phe
XM_011516848.2:c.9793C>T	XP_011515150.1:p.Leu3265Phe
XM_011516849.2:c.9718C>T	XP_011515151.1:p.Leu3240Phe
XM_011516850.2:c.9418C>T	XP_011515152.1:p.Leu3140Phe
XM_011516851.2:c.6682C>T	XP_011515153.1:p.Leu2228Phe
XM_011516852.2:c.6682C>T	XP_011515154.1:p.Leu2228Phe
XM_011516854.2:c.5575C>T	XP_011515156.1:p.Leu1859Phe
XM_017013109.1:c.9601C>T	XP_016868598.1:p.Leu3201Phe
XM_017013111.1:c.6682C>T	XP_016868600.1:p.Leu2228Phe
XM_017013112.1:c.5353C>T	XP_016868601.1:p.Leu1785Phe
XM_024447074.1:c.8581C>T	XP_024302842.1:p.Leu2861Phe
NM_017890.5:c.9796C>T MANE Plus Clinical	NP_060360.3:p.Leu3266Phe
NM_152564.5:c.9721C>T MANE Select	NP_689777.3:p.Leu3241Phe