Canonical Allele Identifier: CA371873987

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100779044T>A (hg19) ; chr8:g.99766816T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766816T>A , CM000670.2:g.99766816T>A	GRCh38
NC_000008.10:g.100779044T>A , CM000670.1:g.100779044T>A	GRCh37
NC_000008.9:g.100848220T>A	NCBI36
NG_007098.2:g.758551T>A , LRG_351:g.758551T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7168T>A	ENSP00000507923.1:p.Phe2390Ile
ENST00000682358.1:n.7238T>A
ENST00000683334.1:c.*2850T>A	ENSP00000507369.1:n.*2850T>A
ENST00000357162.7:c.7093T>A MANE Select	ENSP00000349685.2:p.Phe2365Ile
ENST00000358544.7:c.7168T>A MANE Plus Clinical	ENSP00000351346.2:p.Phe2390Ile
ENST00000357162.6:c.7093T>A	ENSP00000349685.2:p.Phe2365Ile
ENST00000358544.6:c.7168T>A	ENSP00000351346.2:p.Phe2390Ile
ENST00000518569.1:n.223T>A
NM_017890.4:c.7168T>A , LRG_351t1:c.7168T>A	NP_060360.3:p.Phe2390Ile
NM_152564.4:c.7093T>A , LRG_351t2:c.7093T>A	NP_689777.3:p.Phe2365Ile
XM_005250800.2:c.7168T>A	XP_005250857.1:p.Phe2390Ile
XM_005250801.3:c.7168T>A	XP_005250858.1:p.Phe2390Ile
XM_011516848.1:c.7165T>A	XP_011515150.1:p.Phe2389Ile
XM_011516849.1:c.7090T>A	XP_011515151.1:p.Phe2364Ile
XM_011516850.1:c.6790T>A	XP_011515152.1:p.Phe2264Ile
XM_011516851.1:c.4054T>A	XP_011515153.1:p.Phe1352Ile
XM_011516852.1:c.4054T>A	XP_011515154.1:p.Phe1352Ile
XM_011516853.1:c.7168T>A	XP_011515155.1:p.Phe2390Ile
XM_011516854.1:c.2947T>A	XP_011515156.1:p.Phe983Ile
XR_928446.1:n.2065+3872A>T
XM_005250800.3:c.7168T>A	XP_005250857.1:p.Phe2390Ile
XM_005250801.5:c.7168T>A	XP_005250858.1:p.Phe2390Ile
XM_011516848.2:c.7165T>A	XP_011515150.1:p.Phe2389Ile
XM_011516849.2:c.7090T>A	XP_011515151.1:p.Phe2364Ile
XM_011516850.2:c.6790T>A	XP_011515152.1:p.Phe2264Ile
XM_011516851.2:c.4054T>A	XP_011515153.1:p.Phe1352Ile
XM_011516852.2:c.4054T>A	XP_011515154.1:p.Phe1352Ile
XM_011516853.2:c.7168T>A	XP_011515155.1:p.Phe2390Ile
XM_011516854.2:c.2947T>A	XP_011515156.1:p.Phe983Ile
XM_017013109.1:c.6973T>A	XP_016868598.1:p.Phe2325Ile
XM_017013111.1:c.4054T>A	XP_016868600.1:p.Phe1352Ile
XM_017013112.1:c.2725T>A	XP_016868601.1:p.Phe909Ile
XM_024447074.1:c.5953T>A	XP_024302842.1:p.Phe1985Ile
NM_017890.5:c.7168T>A MANE Plus Clinical	NP_060360.3:p.Phe2390Ile
NM_152564.5:c.7093T>A MANE Select	NP_689777.3:p.Phe2365Ile