Canonical Allele Identifier: CA371792420

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868445-T-A
• MyVariant Identifiers: chr8:g.100880673T>A (hg19) ; chr8:g.99868445T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868445T>A , CM000670.2:g.99868445T>A	GRCh38
NC_000008.10:g.100880673T>A , CM000670.1:g.100880673T>A	GRCh37
NC_000008.9:g.100949849T>A	NCBI36
NG_007098.2:g.860180T>A , LRG_351:g.860180T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*541T>A	ENSP00000507923.1:n.*541T>A
ENST00000682358.1:n.11517T>A
ENST00000683334.1:c.*7129T>A	ENSP00000507369.1:n.*7129T>A
ENST00000357162.7:c.11372T>A MANE Select	ENSP00000349685.2:p.Leu3791Gln
ENST00000358544.7:c.11447T>A MANE Plus Clinical	ENSP00000351346.2:p.Leu3816Gln
ENST00000357162.6:c.11372T>A	ENSP00000349685.2:p.Leu3791Gln
ENST00000358544.6:c.11447T>A	ENSP00000351346.2:p.Leu3816Gln
ENST00000493587.1:n.389T>A
NM_017890.4:c.11447T>A , LRG_351t1:c.11447T>A	NP_060360.3:p.Leu3816Gln
NM_152564.4:c.11372T>A , LRG_351t2:c.11372T>A	NP_689777.3:p.Leu3791Gln
XM_005250800.2:c.11447T>A	XP_005250857.1:p.Leu3816Gln
XM_005250801.3:c.11447T>A	XP_005250858.1:p.Leu3816Gln
XM_011516848.1:c.11444T>A	XP_011515150.1:p.Leu3815Gln
XM_011516849.1:c.11369T>A	XP_011515151.1:p.Leu3790Gln
XM_011516850.1:c.11069T>A	XP_011515152.1:p.Leu3690Gln
XM_011516851.1:c.8333T>A	XP_011515153.1:p.Leu2778Gln
XM_011516852.1:c.8333T>A	XP_011515154.1:p.Leu2778Gln
XM_011516854.1:c.7226T>A	XP_011515156.1:p.Leu2409Gln
XM_005250800.3:c.11447T>A	XP_005250857.1:p.Leu3816Gln
XM_005250801.5:c.11447T>A	XP_005250858.1:p.Leu3816Gln
XM_011516848.2:c.11444T>A	XP_011515150.1:p.Leu3815Gln
XM_011516849.2:c.11369T>A	XP_011515151.1:p.Leu3790Gln
XM_011516850.2:c.11069T>A	XP_011515152.1:p.Leu3690Gln
XM_011516851.2:c.8333T>A	XP_011515153.1:p.Leu2778Gln
XM_011516852.2:c.8333T>A	XP_011515154.1:p.Leu2778Gln
XM_011516854.2:c.7226T>A	XP_011515156.1:p.Leu2409Gln
XM_017013109.1:c.11252T>A	XP_016868598.1:p.Leu3751Gln
XM_017013111.1:c.8333T>A	XP_016868600.1:p.Leu2778Gln
XM_017013112.1:c.7004T>A	XP_016868601.1:p.Leu2335Gln
XM_024447074.1:c.10232T>A	XP_024302842.1:p.Leu3411Gln
NM_017890.5:c.11447T>A MANE Plus Clinical	NP_060360.3:p.Leu3816Gln
NM_152564.5:c.11372T>A MANE Select	NP_689777.3:p.Leu3791Gln