Canonical Allele Identifier: CA371791712

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880522A>T (hg19) ; chr8:g.99868294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868294A>T , CM000670.2:g.99868294A>T	GRCh38
NC_000008.10:g.100880522A>T , CM000670.1:g.100880522A>T	GRCh37
NC_000008.9:g.100949698A>T	NCBI36
NG_007098.2:g.860029A>T , LRG_351:g.860029A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*390A>T	ENSP00000507923.1:n.*390A>T
ENST00000682358.1:n.11366A>T
ENST00000683334.1:c.*6978A>T	ENSP00000507369.1:n.*6978A>T
ENST00000357162.7:c.11221A>T MANE Select	ENSP00000349685.2:p.Ile3741Phe
ENST00000358544.7:c.11296A>T MANE Plus Clinical	ENSP00000351346.2:p.Ile3766Phe
ENST00000357162.6:c.11221A>T	ENSP00000349685.2:p.Ile3741Phe
ENST00000358544.6:c.11296A>T	ENSP00000351346.2:p.Ile3766Phe
ENST00000493587.1:n.238A>T
NM_017890.4:c.11296A>T , LRG_351t1:c.11296A>T	NP_060360.3:p.Ile3766Phe
NM_152564.4:c.11221A>T , LRG_351t2:c.11221A>T	NP_689777.3:p.Ile3741Phe
XM_005250800.2:c.11296A>T	XP_005250857.1:p.Ile3766Phe
XM_005250801.3:c.11296A>T	XP_005250858.1:p.Ile3766Phe
XM_011516848.1:c.11293A>T	XP_011515150.1:p.Ile3765Phe
XM_011516849.1:c.11218A>T	XP_011515151.1:p.Ile3740Phe
XM_011516850.1:c.10918A>T	XP_011515152.1:p.Ile3640Phe
XM_011516851.1:c.8182A>T	XP_011515153.1:p.Ile2728Phe
XM_011516852.1:c.8182A>T	XP_011515154.1:p.Ile2728Phe
XM_011516854.1:c.7075A>T	XP_011515156.1:p.Ile2359Phe
XM_005250800.3:c.11296A>T	XP_005250857.1:p.Ile3766Phe
XM_005250801.5:c.11296A>T	XP_005250858.1:p.Ile3766Phe
XM_011516848.2:c.11293A>T	XP_011515150.1:p.Ile3765Phe
XM_011516849.2:c.11218A>T	XP_011515151.1:p.Ile3740Phe
XM_011516850.2:c.10918A>T	XP_011515152.1:p.Ile3640Phe
XM_011516851.2:c.8182A>T	XP_011515153.1:p.Ile2728Phe
XM_011516852.2:c.8182A>T	XP_011515154.1:p.Ile2728Phe
XM_011516854.2:c.7075A>T	XP_011515156.1:p.Ile2359Phe
XM_017013109.1:c.11101A>T	XP_016868598.1:p.Ile3701Phe
XM_017013111.1:c.8182A>T	XP_016868600.1:p.Ile2728Phe
XM_017013112.1:c.6853A>T	XP_016868601.1:p.Ile2285Phe
XM_024447074.1:c.10081A>T	XP_024302842.1:p.Ile3361Phe
NM_017890.5:c.11296A>T MANE Plus Clinical	NP_060360.3:p.Ile3766Phe
NM_152564.5:c.11221A>T MANE Select	NP_689777.3:p.Ile3741Phe