Canonical Allele Identifier: CA371874427

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 2805737
• ClinVar RCV Id: RCV003606103
• gnomAD v4: 8-99766909-G-A
• MyVariant Identifiers: chr8:g.100779137G>A (hg19) ; chr8:g.99766909G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766909G>A , CM000670.2:g.99766909G>A	GRCh38
NC_000008.10:g.100779137G>A , CM000670.1:g.100779137G>A	GRCh37
NC_000008.9:g.100848313G>A	NCBI36
NG_007098.2:g.758644G>A , LRG_351:g.758644G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7261G>A	ENSP00000507923.1:p.Val2421Ile
ENST00000682358.1:n.7331G>A
ENST00000683334.1:c.*2943G>A	ENSP00000507369.1:n.*2943G>A
ENST00000357162.7:c.7186G>A MANE Select	ENSP00000349685.2:p.Val2396Ile
ENST00000358544.7:c.7261G>A MANE Plus Clinical	ENSP00000351346.2:p.Val2421Ile
ENST00000357162.6:c.7186G>A	ENSP00000349685.2:p.Val2396Ile
ENST00000358544.6:c.7261G>A	ENSP00000351346.2:p.Val2421Ile
ENST00000518569.1:n.316G>A
NM_017890.4:c.7261G>A , LRG_351t1:c.7261G>A	NP_060360.3:p.Val2421Ile
NM_152564.4:c.7186G>A , LRG_351t2:c.7186G>A	NP_689777.3:p.Val2396Ile
XM_005250800.2:c.7261G>A	XP_005250857.1:p.Val2421Ile
XM_005250801.3:c.7261G>A	XP_005250858.1:p.Val2421Ile
XM_011516848.1:c.7258G>A	XP_011515150.1:p.Val2420Ile
XM_011516849.1:c.7183G>A	XP_011515151.1:p.Val2395Ile
XM_011516850.1:c.6883G>A	XP_011515152.1:p.Val2295Ile
XM_011516851.1:c.4147G>A	XP_011515153.1:p.Val1383Ile
XM_011516852.1:c.4147G>A	XP_011515154.1:p.Val1383Ile
XM_011516853.1:c.7261G>A	XP_011515155.1:p.Val2421Ile
XM_011516854.1:c.3040G>A	XP_011515156.1:p.Val1014Ile
XR_928446.1:n.2065+3779C>T
XM_005250800.3:c.7261G>A	XP_005250857.1:p.Val2421Ile
XM_005250801.5:c.7261G>A	XP_005250858.1:p.Val2421Ile
XM_011516848.2:c.7258G>A	XP_011515150.1:p.Val2420Ile
XM_011516849.2:c.7183G>A	XP_011515151.1:p.Val2395Ile
XM_011516850.2:c.6883G>A	XP_011515152.1:p.Val2295Ile
XM_011516851.2:c.4147G>A	XP_011515153.1:p.Val1383Ile
XM_011516852.2:c.4147G>A	XP_011515154.1:p.Val1383Ile
XM_011516853.2:c.7261G>A	XP_011515155.1:p.Val2421Ile
XM_011516854.2:c.3040G>A	XP_011515156.1:p.Val1014Ile
XM_017013109.1:c.7066G>A	XP_016868598.1:p.Val2356Ile
XM_017013111.1:c.4147G>A	XP_016868600.1:p.Val1383Ile
XM_017013112.1:c.2818G>A	XP_016868601.1:p.Val940Ile
XM_024447074.1:c.6046G>A	XP_024302842.1:p.Val2016Ile
NM_017890.5:c.7261G>A MANE Plus Clinical	NP_060360.3:p.Val2421Ile
NM_152564.5:c.7186G>A MANE Select	NP_689777.3:p.Val2396Ile