Canonical Allele Identifier: CA371791759

Gene: VPS13B

Linked Data

• dbSNP Id: rs963540960
• gnomAD v2: 8-100880534-G-C
• gnomAD v4: 8-99868306-G-C
• MyVariant Identifiers: chr8:g.100880534G>C (hg19) ; chr8:g.99868306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868306G>C , CM000670.2:g.99868306G>C	GRCh38
NC_000008.10:g.100880534G>C , CM000670.1:g.100880534G>C	GRCh37
NC_000008.9:g.100949710G>C	NCBI36
NG_007098.2:g.860041G>C , LRG_351:g.860041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*402G>C	ENSP00000507923.1:n.*402G>C
ENST00000682358.1:n.11378G>C
ENST00000683334.1:c.*6990G>C	ENSP00000507369.1:n.*6990G>C
ENST00000357162.7:c.11233G>C MANE Select	ENSP00000349685.2:p.Val3745Leu
ENST00000358544.7:c.11308G>C MANE Plus Clinical	ENSP00000351346.2:p.Val3770Leu
ENST00000357162.6:c.11233G>C	ENSP00000349685.2:p.Val3745Leu
ENST00000358544.6:c.11308G>C	ENSP00000351346.2:p.Val3770Leu
ENST00000493587.1:n.250G>C
NM_017890.4:c.11308G>C , LRG_351t1:c.11308G>C	NP_060360.3:p.Val3770Leu
NM_152564.4:c.11233G>C , LRG_351t2:c.11233G>C	NP_689777.3:p.Val3745Leu
XM_005250800.2:c.11308G>C	XP_005250857.1:p.Val3770Leu
XM_005250801.3:c.11308G>C	XP_005250858.1:p.Val3770Leu
XM_011516848.1:c.11305G>C	XP_011515150.1:p.Val3769Leu
XM_011516849.1:c.11230G>C	XP_011515151.1:p.Val3744Leu
XM_011516850.1:c.10930G>C	XP_011515152.1:p.Val3644Leu
XM_011516851.1:c.8194G>C	XP_011515153.1:p.Val2732Leu
XM_011516852.1:c.8194G>C	XP_011515154.1:p.Val2732Leu
XM_011516854.1:c.7087G>C	XP_011515156.1:p.Val2363Leu
XM_005250800.3:c.11308G>C	XP_005250857.1:p.Val3770Leu
XM_005250801.5:c.11308G>C	XP_005250858.1:p.Val3770Leu
XM_011516848.2:c.11305G>C	XP_011515150.1:p.Val3769Leu
XM_011516849.2:c.11230G>C	XP_011515151.1:p.Val3744Leu
XM_011516850.2:c.10930G>C	XP_011515152.1:p.Val3644Leu
XM_011516851.2:c.8194G>C	XP_011515153.1:p.Val2732Leu
XM_011516852.2:c.8194G>C	XP_011515154.1:p.Val2732Leu
XM_011516854.2:c.7087G>C	XP_011515156.1:p.Val2363Leu
XM_017013109.1:c.11113G>C	XP_016868598.1:p.Val3705Leu
XM_017013111.1:c.8194G>C	XP_016868600.1:p.Val2732Leu
XM_017013112.1:c.6865G>C	XP_016868601.1:p.Val2289Leu
XM_024447074.1:c.10093G>C	XP_024302842.1:p.Val3365Leu
NM_017890.5:c.11308G>C MANE Plus Clinical	NP_060360.3:p.Val3770Leu
NM_152564.5:c.11233G>C MANE Select	NP_689777.3:p.Val3745Leu