Canonical Allele Identifier: CA371873975

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99766813-G-C
• MyVariant Identifiers: chr8:g.100779041G>C (hg19) ; chr8:g.99766813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766813G>C , CM000670.2:g.99766813G>C	GRCh38
NC_000008.10:g.100779041G>C , CM000670.1:g.100779041G>C	GRCh37
NC_000008.9:g.100848217G>C	NCBI36
NG_007098.2:g.758548G>C , LRG_351:g.758548G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7165G>C	ENSP00000507923.1:p.Val2389Leu
ENST00000682358.1:n.7235G>C
ENST00000683334.1:c.*2847G>C	ENSP00000507369.1:n.*2847G>C
ENST00000357162.7:c.7090G>C MANE Select	ENSP00000349685.2:p.Val2364Leu
ENST00000358544.7:c.7165G>C MANE Plus Clinical	ENSP00000351346.2:p.Val2389Leu
ENST00000357162.6:c.7090G>C	ENSP00000349685.2:p.Val2364Leu
ENST00000358544.6:c.7165G>C	ENSP00000351346.2:p.Val2389Leu
ENST00000518569.1:n.220G>C
NM_017890.4:c.7165G>C , LRG_351t1:c.7165G>C	NP_060360.3:p.Val2389Leu
NM_152564.4:c.7090G>C , LRG_351t2:c.7090G>C	NP_689777.3:p.Val2364Leu
XM_005250800.2:c.7165G>C	XP_005250857.1:p.Val2389Leu
XM_005250801.3:c.7165G>C	XP_005250858.1:p.Val2389Leu
XM_011516848.1:c.7162G>C	XP_011515150.1:p.Val2388Leu
XM_011516849.1:c.7087G>C	XP_011515151.1:p.Val2363Leu
XM_011516850.1:c.6787G>C	XP_011515152.1:p.Val2263Leu
XM_011516851.1:c.4051G>C	XP_011515153.1:p.Val1351Leu
XM_011516852.1:c.4051G>C	XP_011515154.1:p.Val1351Leu
XM_011516853.1:c.7165G>C	XP_011515155.1:p.Val2389Leu
XM_011516854.1:c.2944G>C	XP_011515156.1:p.Val982Leu
XR_928446.1:n.2065+3875C>G
XM_005250800.3:c.7165G>C	XP_005250857.1:p.Val2389Leu
XM_005250801.5:c.7165G>C	XP_005250858.1:p.Val2389Leu
XM_011516848.2:c.7162G>C	XP_011515150.1:p.Val2388Leu
XM_011516849.2:c.7087G>C	XP_011515151.1:p.Val2363Leu
XM_011516850.2:c.6787G>C	XP_011515152.1:p.Val2263Leu
XM_011516851.2:c.4051G>C	XP_011515153.1:p.Val1351Leu
XM_011516852.2:c.4051G>C	XP_011515154.1:p.Val1351Leu
XM_011516853.2:c.7165G>C	XP_011515155.1:p.Val2389Leu
XM_011516854.2:c.2944G>C	XP_011515156.1:p.Val982Leu
XM_017013109.1:c.6970G>C	XP_016868598.1:p.Val2324Leu
XM_017013111.1:c.4051G>C	XP_016868600.1:p.Val1351Leu
XM_017013112.1:c.2722G>C	XP_016868601.1:p.Val908Leu
XM_024447074.1:c.5950G>C	XP_024302842.1:p.Val1984Leu
NM_017890.5:c.7165G>C MANE Plus Clinical	NP_060360.3:p.Val2389Leu
NM_152564.5:c.7090G>C MANE Select	NP_689777.3:p.Val2364Leu