Canonical Allele Identifier: CA371873888

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100711780C>A (hg19) ; chr8:g.99699552C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699552C>A , CM000670.2:g.99699552C>A	GRCh38
NC_000008.10:g.100711780C>A , CM000670.1:g.100711780C>A	GRCh37
NC_000008.9:g.100780956C>A	NCBI36
NG_007098.2:g.691287C>A , LRG_351:g.691287C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6149C>A	ENSP00000507923.1:p.Pro2050His
ENST00000682358.1:n.6219C>A
ENST00000683334.1:c.*1831C>A	ENSP00000507369.1:n.*1831C>A
ENST00000357162.7:c.6074C>A MANE Select	ENSP00000349685.2:p.Pro2025His
ENST00000358544.7:c.6149C>A MANE Plus Clinical	ENSP00000351346.2:p.Pro2050His
ENST00000357162.6:c.6074C>A	ENSP00000349685.2:p.Pro2025His
ENST00000358544.6:c.6149C>A	ENSP00000351346.2:p.Pro2050His
NM_017890.4:c.6149C>A , LRG_351t1:c.6149C>A	NP_060360.3:p.Pro2050His
NM_152564.4:c.6074C>A , LRG_351t2:c.6074C>A	NP_689777.3:p.Pro2025His
XM_005250800.2:c.6149C>A	XP_005250857.1:p.Pro2050His
XM_005250801.3:c.6149C>A	XP_005250858.1:p.Pro2050His
XM_011516848.1:c.6146C>A	XP_011515150.1:p.Pro2049His
XM_011516849.1:c.6071C>A	XP_011515151.1:p.Pro2024His
XM_011516850.1:c.5771C>A	XP_011515152.1:p.Pro1924His
XM_011516851.1:c.3035C>A	XP_011515153.1:p.Pro1012His
XM_011516852.1:c.3035C>A	XP_011515154.1:p.Pro1012His
XM_011516853.1:c.6149C>A	XP_011515155.1:p.Pro2050His
XM_011516854.1:c.1928C>A	XP_011515156.1:p.Pro643His
XM_005250800.3:c.6149C>A	XP_005250857.1:p.Pro2050His
XM_005250801.5:c.6149C>A	XP_005250858.1:p.Pro2050His
XM_011516848.2:c.6146C>A	XP_011515150.1:p.Pro2049His
XM_011516849.2:c.6071C>A	XP_011515151.1:p.Pro2024His
XM_011516850.2:c.5771C>A	XP_011515152.1:p.Pro1924His
XM_011516851.2:c.3035C>A	XP_011515153.1:p.Pro1012His
XM_011516852.2:c.3035C>A	XP_011515154.1:p.Pro1012His
XM_011516853.2:c.6149C>A	XP_011515155.1:p.Pro2050His
XM_011516854.2:c.1928C>A	XP_011515156.1:p.Pro643His
XM_017013109.1:c.5954C>A	XP_016868598.1:p.Pro1985His
XM_017013111.1:c.3035C>A	XP_016868600.1:p.Pro1012His
XM_017013112.1:c.1706C>A	XP_016868601.1:p.Pro569His
XM_024447074.1:c.4934C>A	XP_024302842.1:p.Pro1645His
XR_001745482.2:n.6110C>A
NM_017890.5:c.6149C>A MANE Plus Clinical	NP_060360.3:p.Pro2050His
NM_152564.5:c.6074C>A MANE Select	NP_689777.3:p.Pro2025His