Canonical Allele Identifier: CA371790591

Gene: VPS13B

Linked Data

• dbSNP Id: rs1588797744
• gnomAD v4: 8-99861869-A-G
• MyVariant Identifiers: chr8:g.100874097A>G (hg19) ; chr8:g.99861869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861869A>G , CM000670.2:g.99861869A>G	GRCh38
NC_000008.10:g.100874097A>G , CM000670.1:g.100874097A>G	GRCh37
NC_000008.9:g.100943273A>G	NCBI36
NG_007098.2:g.853604A>G , LRG_351:g.853604A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*307A>G	ENSP00000507923.1:n.*307A>G
ENST00000682358.1:n.11283A>G
ENST00000683334.1:c.*6895A>G	ENSP00000507369.1:n.*6895A>G
ENST00000357162.7:c.11138A>G MANE Select	ENSP00000349685.2:p.Glu3713Gly
ENST00000358544.7:c.11213A>G MANE Plus Clinical	ENSP00000351346.2:p.Glu3738Gly
ENST00000357162.6:c.11138A>G	ENSP00000349685.2:p.Glu3713Gly
ENST00000358544.6:c.11213A>G	ENSP00000351346.2:p.Glu3738Gly
NM_017890.4:c.11213A>G , LRG_351t1:c.11213A>G	NP_060360.3:p.Glu3738Gly
NM_152564.4:c.11138A>G , LRG_351t2:c.11138A>G	NP_689777.3:p.Glu3713Gly
XM_005250800.2:c.11213A>G	XP_005250857.1:p.Glu3738Gly
XM_005250801.3:c.11213A>G	XP_005250858.1:p.Glu3738Gly
XM_011516848.1:c.11210A>G	XP_011515150.1:p.Glu3737Gly
XM_011516849.1:c.11135A>G	XP_011515151.1:p.Glu3712Gly
XM_011516850.1:c.10835A>G	XP_011515152.1:p.Glu3612Gly
XM_011516851.1:c.8099A>G	XP_011515153.1:p.Glu2700Gly
XM_011516852.1:c.8099A>G	XP_011515154.1:p.Glu2700Gly
XM_011516854.1:c.6992A>G	XP_011515156.1:p.Glu2331Gly
XM_005250800.3:c.11213A>G	XP_005250857.1:p.Glu3738Gly
XM_005250801.5:c.11213A>G	XP_005250858.1:p.Glu3738Gly
XM_011516848.2:c.11210A>G	XP_011515150.1:p.Glu3737Gly
XM_011516849.2:c.11135A>G	XP_011515151.1:p.Glu3712Gly
XM_011516850.2:c.10835A>G	XP_011515152.1:p.Glu3612Gly
XM_011516851.2:c.8099A>G	XP_011515153.1:p.Glu2700Gly
XM_011516852.2:c.8099A>G	XP_011515154.1:p.Glu2700Gly
XM_011516854.2:c.6992A>G	XP_011515156.1:p.Glu2331Gly
XM_017013109.1:c.11018A>G	XP_016868598.1:p.Glu3673Gly
XM_017013111.1:c.8099A>G	XP_016868600.1:p.Glu2700Gly
XM_017013112.1:c.6770A>G	XP_016868601.1:p.Glu2257Gly
XM_024447074.1:c.9998A>G	XP_024302842.1:p.Glu3333Gly
NM_017890.5:c.11213A>G MANE Plus Clinical	NP_060360.3:p.Glu3738Gly
NM_152564.5:c.11138A>G MANE Select	NP_689777.3:p.Glu3713Gly