Canonical Allele Identifier: CA371790193

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861781-C-A
• MyVariant Identifiers: chr8:g.100874009C>A (hg19) ; chr8:g.99861781C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861781C>A , CM000670.2:g.99861781C>A	GRCh38
NC_000008.10:g.100874009C>A , CM000670.1:g.100874009C>A	GRCh37
NC_000008.9:g.100943185C>A	NCBI36
NG_007098.2:g.853516C>A , LRG_351:g.853516C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*219C>A	ENSP00000507923.1:n.*219C>A
ENST00000682358.1:n.11195C>A
ENST00000683334.1:c.*6807C>A	ENSP00000507369.1:n.*6807C>A
ENST00000357162.7:c.11050C>A MANE Select	ENSP00000349685.2:p.Leu3684Ile
ENST00000358544.7:c.11125C>A MANE Plus Clinical	ENSP00000351346.2:p.Leu3709Ile
ENST00000357162.6:c.11050C>A	ENSP00000349685.2:p.Leu3684Ile
ENST00000358544.6:c.11125C>A	ENSP00000351346.2:p.Leu3709Ile
NM_017890.4:c.11125C>A , LRG_351t1:c.11125C>A	NP_060360.3:p.Leu3709Ile
NM_152564.4:c.11050C>A , LRG_351t2:c.11050C>A	NP_689777.3:p.Leu3684Ile
XM_005250800.2:c.11125C>A	XP_005250857.1:p.Leu3709Ile
XM_005250801.3:c.11125C>A	XP_005250858.1:p.Leu3709Ile
XM_011516848.1:c.11122C>A	XP_011515150.1:p.Leu3708Ile
XM_011516849.1:c.11047C>A	XP_011515151.1:p.Leu3683Ile
XM_011516850.1:c.10747C>A	XP_011515152.1:p.Leu3583Ile
XM_011516851.1:c.8011C>A	XP_011515153.1:p.Leu2671Ile
XM_011516852.1:c.8011C>A	XP_011515154.1:p.Leu2671Ile
XM_011516854.1:c.6904C>A	XP_011515156.1:p.Leu2302Ile
XM_005250800.3:c.11125C>A	XP_005250857.1:p.Leu3709Ile
XM_005250801.5:c.11125C>A	XP_005250858.1:p.Leu3709Ile
XM_011516848.2:c.11122C>A	XP_011515150.1:p.Leu3708Ile
XM_011516849.2:c.11047C>A	XP_011515151.1:p.Leu3683Ile
XM_011516850.2:c.10747C>A	XP_011515152.1:p.Leu3583Ile
XM_011516851.2:c.8011C>A	XP_011515153.1:p.Leu2671Ile
XM_011516852.2:c.8011C>A	XP_011515154.1:p.Leu2671Ile
XM_011516854.2:c.6904C>A	XP_011515156.1:p.Leu2302Ile
XM_017013109.1:c.10930C>A	XP_016868598.1:p.Leu3644Ile
XM_017013111.1:c.8011C>A	XP_016868600.1:p.Leu2671Ile
XM_017013112.1:c.6682C>A	XP_016868601.1:p.Leu2228Ile
XM_024447074.1:c.9910C>A	XP_024302842.1:p.Leu3304Ile
NM_017890.5:c.11125C>A MANE Plus Clinical	NP_060360.3:p.Leu3709Ile
NM_152564.5:c.11050C>A MANE Select	NP_689777.3:p.Leu3684Ile