Canonical Allele Identifier: CA371875550

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100789010A>T (hg19) ; chr8:g.99776782A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776782A>T , CM000670.2:g.99776782A>T	GRCh38
NC_000008.10:g.100789010A>T , CM000670.1:g.100789010A>T	GRCh37
NC_000008.9:g.100858186A>T	NCBI36
NG_007098.2:g.768517A>T , LRG_351:g.768517A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7330A>T	ENSP00000507923.1:p.Ser2444Cys
ENST00000682358.1:n.7400A>T
ENST00000683334.1:c.*3012A>T	ENSP00000507369.1:n.*3012A>T
ENST00000357162.7:c.7255A>T MANE Select	ENSP00000349685.2:p.Ser2419Cys
ENST00000358544.7:c.7330A>T MANE Plus Clinical	ENSP00000351346.2:p.Ser2444Cys
ENST00000357162.6:c.7255A>T	ENSP00000349685.2:p.Ser2419Cys
ENST00000358544.6:c.7330A>T	ENSP00000351346.2:p.Ser2444Cys
ENST00000518569.1:n.378-1900A>T
NM_017890.4:c.7330A>T , LRG_351t1:c.7330A>T	NP_060360.3:p.Ser2444Cys
NM_152564.4:c.7255A>T , LRG_351t2:c.7255A>T	NP_689777.3:p.Ser2419Cys
XM_005250800.2:c.7330A>T	XP_005250857.1:p.Ser2444Cys
XM_005250801.3:c.7330A>T	XP_005250858.1:p.Ser2444Cys
XM_011516848.1:c.7327A>T	XP_011515150.1:p.Ser2443Cys
XM_011516849.1:c.7252A>T	XP_011515151.1:p.Ser2418Cys
XM_011516850.1:c.6952A>T	XP_011515152.1:p.Ser2318Cys
XM_011516851.1:c.4216A>T	XP_011515153.1:p.Ser1406Cys
XM_011516852.1:c.4216A>T	XP_011515154.1:p.Ser1406Cys
XM_011516853.1:c.7330A>T	XP_011515155.1:p.Ser2444Cys
XM_011516854.1:c.3109A>T	XP_011515156.1:p.Ser1037Cys
XR_928446.1:n.1830+5696T>A
XM_005250800.3:c.7330A>T	XP_005250857.1:p.Ser2444Cys
XM_005250801.5:c.7330A>T	XP_005250858.1:p.Ser2444Cys
XM_011516848.2:c.7327A>T	XP_011515150.1:p.Ser2443Cys
XM_011516849.2:c.7252A>T	XP_011515151.1:p.Ser2418Cys
XM_011516850.2:c.6952A>T	XP_011515152.1:p.Ser2318Cys
XM_011516851.2:c.4216A>T	XP_011515153.1:p.Ser1406Cys
XM_011516852.2:c.4216A>T	XP_011515154.1:p.Ser1406Cys
XM_011516853.2:c.7330A>T	XP_011515155.1:p.Ser2444Cys
XM_011516854.2:c.3109A>T	XP_011515156.1:p.Ser1037Cys
XM_017013109.1:c.7135A>T	XP_016868598.1:p.Ser2379Cys
XM_017013111.1:c.4216A>T	XP_016868600.1:p.Ser1406Cys
XM_017013112.1:c.2887A>T	XP_016868601.1:p.Ser963Cys
XM_024447074.1:c.6115A>T	XP_024302842.1:p.Ser2039Cys
NM_017890.5:c.7330A>T MANE Plus Clinical	NP_060360.3:p.Ser2444Cys
NM_152564.5:c.7255A>T MANE Select	NP_689777.3:p.Ser2419Cys