Canonical Allele Identifier: CA371791815

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100880547T>A (hg19) ; chr8:g.99868319T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868319T>A , CM000670.2:g.99868319T>A	GRCh38
NC_000008.10:g.100880547T>A , CM000670.1:g.100880547T>A	GRCh37
NC_000008.9:g.100949723T>A	NCBI36
NG_007098.2:g.860054T>A , LRG_351:g.860054T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*415T>A	ENSP00000507923.1:n.*415T>A
ENST00000682358.1:n.11391T>A
ENST00000683334.1:c.*7003T>A	ENSP00000507369.1:n.*7003T>A
ENST00000357162.7:c.11246T>A MANE Select	ENSP00000349685.2:p.Met3749Lys
ENST00000358544.7:c.11321T>A MANE Plus Clinical	ENSP00000351346.2:p.Met3774Lys
ENST00000357162.6:c.11246T>A	ENSP00000349685.2:p.Met3749Lys
ENST00000358544.6:c.11321T>A	ENSP00000351346.2:p.Met3774Lys
ENST00000493587.1:n.263T>A
NM_017890.4:c.11321T>A , LRG_351t1:c.11321T>A	NP_060360.3:p.Met3774Lys
NM_152564.4:c.11246T>A , LRG_351t2:c.11246T>A	NP_689777.3:p.Met3749Lys
XM_005250800.2:c.11321T>A	XP_005250857.1:p.Met3774Lys
XM_005250801.3:c.11321T>A	XP_005250858.1:p.Met3774Lys
XM_011516848.1:c.11318T>A	XP_011515150.1:p.Met3773Lys
XM_011516849.1:c.11243T>A	XP_011515151.1:p.Met3748Lys
XM_011516850.1:c.10943T>A	XP_011515152.1:p.Met3648Lys
XM_011516851.1:c.8207T>A	XP_011515153.1:p.Met2736Lys
XM_011516852.1:c.8207T>A	XP_011515154.1:p.Met2736Lys
XM_011516854.1:c.7100T>A	XP_011515156.1:p.Met2367Lys
XM_005250800.3:c.11321T>A	XP_005250857.1:p.Met3774Lys
XM_005250801.5:c.11321T>A	XP_005250858.1:p.Met3774Lys
XM_011516848.2:c.11318T>A	XP_011515150.1:p.Met3773Lys
XM_011516849.2:c.11243T>A	XP_011515151.1:p.Met3748Lys
XM_011516850.2:c.10943T>A	XP_011515152.1:p.Met3648Lys
XM_011516851.2:c.8207T>A	XP_011515153.1:p.Met2736Lys
XM_011516852.2:c.8207T>A	XP_011515154.1:p.Met2736Lys
XM_011516854.2:c.7100T>A	XP_011515156.1:p.Met2367Lys
XM_017013109.1:c.11126T>A	XP_016868598.1:p.Met3709Lys
XM_017013111.1:c.8207T>A	XP_016868600.1:p.Met2736Lys
XM_017013112.1:c.6878T>A	XP_016868601.1:p.Met2293Lys
XM_024447074.1:c.10106T>A	XP_024302842.1:p.Met3369Lys
NM_017890.5:c.11321T>A MANE Plus Clinical	NP_060360.3:p.Met3774Lys
NM_152564.5:c.11246T>A MANE Select	NP_689777.3:p.Met3749Lys