Canonical Allele Identifier: CA371873770

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100711763T>A (hg19) ; chr8:g.99699535T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699535T>A , CM000670.2:g.99699535T>A	GRCh38
NC_000008.10:g.100711763T>A , CM000670.1:g.100711763T>A	GRCh37
NC_000008.9:g.100780939T>A	NCBI36
NG_007098.2:g.691270T>A , LRG_351:g.691270T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6132T>A	ENSP00000507923.1:p.Asn2044Lys
ENST00000682358.1:n.6202T>A
ENST00000683334.1:c.*1814T>A	ENSP00000507369.1:n.*1814T>A
ENST00000357162.7:c.6057T>A MANE Select	ENSP00000349685.2:p.Asn2019Lys
ENST00000358544.7:c.6132T>A MANE Plus Clinical	ENSP00000351346.2:p.Asn2044Lys
ENST00000357162.6:c.6057T>A	ENSP00000349685.2:p.Asn2019Lys
ENST00000358544.6:c.6132T>A	ENSP00000351346.2:p.Asn2044Lys
NM_017890.4:c.6132T>A , LRG_351t1:c.6132T>A	NP_060360.3:p.Asn2044Lys
NM_152564.4:c.6057T>A , LRG_351t2:c.6057T>A	NP_689777.3:p.Asn2019Lys
XM_005250800.2:c.6132T>A	XP_005250857.1:p.Asn2044Lys
XM_005250801.3:c.6132T>A	XP_005250858.1:p.Asn2044Lys
XM_011516848.1:c.6129T>A	XP_011515150.1:p.Asn2043Lys
XM_011516849.1:c.6054T>A	XP_011515151.1:p.Asn2018Lys
XM_011516850.1:c.5754T>A	XP_011515152.1:p.Asn1918Lys
XM_011516851.1:c.3018T>A	XP_011515153.1:p.Asn1006Lys
XM_011516852.1:c.3018T>A	XP_011515154.1:p.Asn1006Lys
XM_011516853.1:c.6132T>A	XP_011515155.1:p.Asn2044Lys
XM_011516854.1:c.1911T>A	XP_011515156.1:p.Asn637Lys
XM_005250800.3:c.6132T>A	XP_005250857.1:p.Asn2044Lys
XM_005250801.5:c.6132T>A	XP_005250858.1:p.Asn2044Lys
XM_011516848.2:c.6129T>A	XP_011515150.1:p.Asn2043Lys
XM_011516849.2:c.6054T>A	XP_011515151.1:p.Asn2018Lys
XM_011516850.2:c.5754T>A	XP_011515152.1:p.Asn1918Lys
XM_011516851.2:c.3018T>A	XP_011515153.1:p.Asn1006Lys
XM_011516852.2:c.3018T>A	XP_011515154.1:p.Asn1006Lys
XM_011516853.2:c.6132T>A	XP_011515155.1:p.Asn2044Lys
XM_011516854.2:c.1911T>A	XP_011515156.1:p.Asn637Lys
XM_017013109.1:c.5937T>A	XP_016868598.1:p.Asn1979Lys
XM_017013111.1:c.3018T>A	XP_016868600.1:p.Asn1006Lys
XM_017013112.1:c.1689T>A	XP_016868601.1:p.Asn563Lys
XM_024447074.1:c.4917T>A	XP_024302842.1:p.Asn1639Lys
XR_001745482.2:n.6093T>A
NM_017890.5:c.6132T>A MANE Plus Clinical	NP_060360.3:p.Asn2044Lys
NM_152564.5:c.6057T>A MANE Select	NP_689777.3:p.Asn2019Lys