Canonical Allele Identifier: CA4824443

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 528842
• ClinVar RCV Id: RCV000634099 ; RCV002529820 ; RCV003905701
• dbSNP Id: rs371325199
• ExAC: 8:100830707 A / G
• gnomAD v2: 8-100830707-A-G
• gnomAD v3: 8-99818479-A-G
• gnomAD v4: 8-99818479-A-G
• MyVariant Identifiers: chr8:g.100830707A>G (hg19) ; chr8:g.99818479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99818479A>G , CM000670.2:g.99818479A>G	GRCh38
NC_000008.10:g.100830707A>G , CM000670.1:g.100830707A>G	GRCh37
NC_000008.9:g.100899883A>G	NCBI36
NG_007098.2:g.810214A>G , LRG_351:g.810214A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.8465A>G	ENSP00000507923.1:p.Tyr2822Cys
ENST00000682358.1:n.8535A>G
ENST00000683334.1:c.*4147A>G	ENSP00000507369.1:n.*4147A>G
ENST00000357162.7:c.8390A>G MANE Select	ENSP00000349685.2:p.Tyr2797Cys
ENST00000358544.7:c.8465A>G MANE Plus Clinical	ENSP00000351346.2:p.Tyr2822Cys
ENST00000357162.6:c.8390A>G	ENSP00000349685.2:p.Tyr2797Cys
ENST00000358544.6:c.8465A>G	ENSP00000351346.2:p.Tyr2822Cys
NM_017890.4:c.8465A>G , LRG_351t1:c.8465A>G	NP_060360.3:p.Tyr2822Cys
NM_152564.4:c.8390A>G , LRG_351t2:c.8390A>G	NP_689777.3:p.Tyr2797Cys
XM_005250800.2:c.8465A>G	XP_005250857.1:p.Tyr2822Cys
XM_005250801.3:c.8465A>G	XP_005250858.1:p.Tyr2822Cys
XM_011516848.1:c.8462A>G	XP_011515150.1:p.Tyr2821Cys
XM_011516849.1:c.8387A>G	XP_011515151.1:p.Tyr2796Cys
XM_011516850.1:c.8087A>G	XP_011515152.1:p.Tyr2696Cys
XM_011516851.1:c.5351A>G	XP_011515153.1:p.Tyr1784Cys
XM_011516852.1:c.5351A>G	XP_011515154.1:p.Tyr1784Cys
XM_011516854.1:c.4244A>G	XP_011515156.1:p.Tyr1415Cys
XM_005250800.3:c.8465A>G	XP_005250857.1:p.Tyr2822Cys
XM_005250801.5:c.8465A>G	XP_005250858.1:p.Tyr2822Cys
XM_011516848.2:c.8462A>G	XP_011515150.1:p.Tyr2821Cys
XM_011516849.2:c.8387A>G	XP_011515151.1:p.Tyr2796Cys
XM_011516850.2:c.8087A>G	XP_011515152.1:p.Tyr2696Cys
XM_011516851.2:c.5351A>G	XP_011515153.1:p.Tyr1784Cys
XM_011516852.2:c.5351A>G	XP_011515154.1:p.Tyr1784Cys
XM_011516854.2:c.4244A>G	XP_011515156.1:p.Tyr1415Cys
XM_017013109.1:c.8270A>G	XP_016868598.1:p.Tyr2757Cys
XM_017013111.1:c.5351A>G	XP_016868600.1:p.Tyr1784Cys
XM_017013112.1:c.4022A>G	XP_016868601.1:p.Tyr1341Cys
XM_024447074.1:c.7250A>G	XP_024302842.1:p.Tyr2417Cys
NM_017890.5:c.8465A>G MANE Plus Clinical	NP_060360.3:p.Tyr2822Cys
NM_152564.5:c.8390A>G MANE Select	NP_689777.3:p.Tyr2797Cys