Canonical Allele Identifier: CA371791763

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868307-T-C
• MyVariant Identifiers: chr8:g.100880535T>C (hg19) ; chr8:g.99868307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868307T>C , CM000670.2:g.99868307T>C	GRCh38
NC_000008.10:g.100880535T>C , CM000670.1:g.100880535T>C	GRCh37
NC_000008.9:g.100949711T>C	NCBI36
NG_007098.2:g.860042T>C , LRG_351:g.860042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*403T>C	ENSP00000507923.1:n.*403T>C
ENST00000682358.1:n.11379T>C
ENST00000683334.1:c.*6991T>C	ENSP00000507369.1:n.*6991T>C
ENST00000357162.7:c.11234T>C MANE Select	ENSP00000349685.2:p.Val3745Ala
ENST00000358544.7:c.11309T>C MANE Plus Clinical	ENSP00000351346.2:p.Val3770Ala
ENST00000357162.6:c.11234T>C	ENSP00000349685.2:p.Val3745Ala
ENST00000358544.6:c.11309T>C	ENSP00000351346.2:p.Val3770Ala
ENST00000493587.1:n.251T>C
NM_017890.4:c.11309T>C , LRG_351t1:c.11309T>C	NP_060360.3:p.Val3770Ala
NM_152564.4:c.11234T>C , LRG_351t2:c.11234T>C	NP_689777.3:p.Val3745Ala
XM_005250800.2:c.11309T>C	XP_005250857.1:p.Val3770Ala
XM_005250801.3:c.11309T>C	XP_005250858.1:p.Val3770Ala
XM_011516848.1:c.11306T>C	XP_011515150.1:p.Val3769Ala
XM_011516849.1:c.11231T>C	XP_011515151.1:p.Val3744Ala
XM_011516850.1:c.10931T>C	XP_011515152.1:p.Val3644Ala
XM_011516851.1:c.8195T>C	XP_011515153.1:p.Val2732Ala
XM_011516852.1:c.8195T>C	XP_011515154.1:p.Val2732Ala
XM_011516854.1:c.7088T>C	XP_011515156.1:p.Val2363Ala
XM_005250800.3:c.11309T>C	XP_005250857.1:p.Val3770Ala
XM_005250801.5:c.11309T>C	XP_005250858.1:p.Val3770Ala
XM_011516848.2:c.11306T>C	XP_011515150.1:p.Val3769Ala
XM_011516849.2:c.11231T>C	XP_011515151.1:p.Val3744Ala
XM_011516850.2:c.10931T>C	XP_011515152.1:p.Val3644Ala
XM_011516851.2:c.8195T>C	XP_011515153.1:p.Val2732Ala
XM_011516852.2:c.8195T>C	XP_011515154.1:p.Val2732Ala
XM_011516854.2:c.7088T>C	XP_011515156.1:p.Val2363Ala
XM_017013109.1:c.11114T>C	XP_016868598.1:p.Val3705Ala
XM_017013111.1:c.8195T>C	XP_016868600.1:p.Val2732Ala
XM_017013112.1:c.6866T>C	XP_016868601.1:p.Val2289Ala
XM_024447074.1:c.10094T>C	XP_024302842.1:p.Val3365Ala
NM_017890.5:c.11309T>C MANE Plus Clinical	NP_060360.3:p.Val3770Ala
NM_152564.5:c.11234T>C MANE Select	NP_689777.3:p.Val3745Ala