Canonical Allele Identifier: CA371776560

Gene: VPS13B

Linked Data

• dbSNP Id: rs1414281039
• MyVariant Identifiers: chr8:g.100831770C>T (hg19) ; chr8:g.99819542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819542C>T , CM000670.2:g.99819542C>T	GRCh38
NC_000008.10:g.100831770C>T , CM000670.1:g.100831770C>T	GRCh37
NC_000008.9:g.100900946C>T	NCBI36
NG_007098.2:g.811277C>T , LRG_351:g.811277C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8827C>T	ENSP00000507923.1:p.Leu2943Phe
ENST00000682358.1:n.8897C>T
ENST00000683334.1:c.*4509C>T	ENSP00000507369.1:n.*4509C>T
ENST00000357162.7:c.8752C>T MANE Select	ENSP00000349685.2:p.Leu2918Phe
ENST00000358544.7:c.8827C>T MANE Plus Clinical	ENSP00000351346.2:p.Leu2943Phe
ENST00000357162.6:c.8752C>T	ENSP00000349685.2:p.Leu2918Phe
ENST00000358544.6:c.8827C>T	ENSP00000351346.2:p.Leu2943Phe
NM_017890.4:c.8827C>T , LRG_351t1:c.8827C>T	NP_060360.3:p.Leu2943Phe
NM_152564.4:c.8752C>T , LRG_351t2:c.8752C>T	NP_689777.3:p.Leu2918Phe
XM_005250800.2:c.8827C>T	XP_005250857.1:p.Leu2943Phe
XM_005250801.3:c.8827C>T	XP_005250858.1:p.Leu2943Phe
XM_011516848.1:c.8824C>T	XP_011515150.1:p.Leu2942Phe
XM_011516849.1:c.8749C>T	XP_011515151.1:p.Leu2917Phe
XM_011516850.1:c.8449C>T	XP_011515152.1:p.Leu2817Phe
XM_011516851.1:c.5713C>T	XP_011515153.1:p.Leu1905Phe
XM_011516852.1:c.5713C>T	XP_011515154.1:p.Leu1905Phe
XM_011516854.1:c.4606C>T	XP_011515156.1:p.Leu1536Phe
XM_005250800.3:c.8827C>T	XP_005250857.1:p.Leu2943Phe
XM_005250801.5:c.8827C>T	XP_005250858.1:p.Leu2943Phe
XM_011516848.2:c.8824C>T	XP_011515150.1:p.Leu2942Phe
XM_011516849.2:c.8749C>T	XP_011515151.1:p.Leu2917Phe
XM_011516850.2:c.8449C>T	XP_011515152.1:p.Leu2817Phe
XM_011516851.2:c.5713C>T	XP_011515153.1:p.Leu1905Phe
XM_011516852.2:c.5713C>T	XP_011515154.1:p.Leu1905Phe
XM_011516854.2:c.4606C>T	XP_011515156.1:p.Leu1536Phe
XM_017013109.1:c.8632C>T	XP_016868598.1:p.Leu2878Phe
XM_017013111.1:c.5713C>T	XP_016868600.1:p.Leu1905Phe
XM_017013112.1:c.4384C>T	XP_016868601.1:p.Leu1462Phe
XM_024447074.1:c.7612C>T	XP_024302842.1:p.Leu2538Phe
NM_017890.5:c.8827C>T MANE Plus Clinical	NP_060360.3:p.Leu2943Phe
NM_152564.5:c.8752C>T MANE Select	NP_689777.3:p.Leu2918Phe