Canonical Allele Identifier: CA371867413

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100729556A>T (hg19) ; chr8:g.99717328A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717328A>T , CM000670.2:g.99717328A>T	GRCh38
NC_000008.10:g.100729556A>T , CM000670.1:g.100729556A>T	GRCh37
NC_000008.9:g.100798732A>T	NCBI36
NG_007098.2:g.709063A>T , LRG_351:g.709063A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6687A>T	ENSP00000507923.1:p.Gln2229His
ENST00000682358.1:n.6757A>T
ENST00000683334.1:c.*2369A>T	ENSP00000507369.1:n.*2369A>T
ENST00000357162.7:c.6612A>T MANE Select	ENSP00000349685.2:p.Gln2204His
ENST00000358544.7:c.6687A>T MANE Plus Clinical	ENSP00000351346.2:p.Gln2229His
ENST00000357162.6:c.6612A>T	ENSP00000349685.2:p.Gln2204His
ENST00000358544.6:c.6687A>T	ENSP00000351346.2:p.Gln2229His
NM_017890.4:c.6687A>T , LRG_351t1:c.6687A>T	NP_060360.3:p.Gln2229His
NM_152564.4:c.6612A>T , LRG_351t2:c.6612A>T	NP_689777.3:p.Gln2204His
XM_005250800.2:c.6687A>T	XP_005250857.1:p.Gln2229His
XM_005250801.3:c.6687A>T	XP_005250858.1:p.Gln2229His
XM_011516848.1:c.6684A>T	XP_011515150.1:p.Gln2228His
XM_011516849.1:c.6609A>T	XP_011515151.1:p.Gln2203His
XM_011516850.1:c.6309A>T	XP_011515152.1:p.Gln2103His
XM_011516851.1:c.3573A>T	XP_011515153.1:p.Gln1191His
XM_011516852.1:c.3573A>T	XP_011515154.1:p.Gln1191His
XM_011516853.1:c.6687A>T	XP_011515155.1:p.Gln2229His
XM_011516854.1:c.2466A>T	XP_011515156.1:p.Gln822His
XM_005250800.3:c.6687A>T	XP_005250857.1:p.Gln2229His
XM_005250801.5:c.6687A>T	XP_005250858.1:p.Gln2229His
XM_011516848.2:c.6684A>T	XP_011515150.1:p.Gln2228His
XM_011516849.2:c.6609A>T	XP_011515151.1:p.Gln2203His
XM_011516850.2:c.6309A>T	XP_011515152.1:p.Gln2103His
XM_011516851.2:c.3573A>T	XP_011515153.1:p.Gln1191His
XM_011516852.2:c.3573A>T	XP_011515154.1:p.Gln1191His
XM_011516853.2:c.6687A>T	XP_011515155.1:p.Gln2229His
XM_011516854.2:c.2466A>T	XP_011515156.1:p.Gln822His
XM_017013109.1:c.6492A>T	XP_016868598.1:p.Gln2164His
XM_017013111.1:c.3573A>T	XP_016868600.1:p.Gln1191His
XM_017013112.1:c.2244A>T	XP_016868601.1:p.Gln748His
XM_024447074.1:c.5472A>T	XP_024302842.1:p.Gln1824His
NM_017890.5:c.6687A>T MANE Plus Clinical	NP_060360.3:p.Gln2229His
NM_152564.5:c.6612A>T MANE Select	NP_689777.3:p.Gln2204His