Canonical Allele Identifier: CA2843184876

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868232T>C , CM000670.2:g.99868232T>C	GRCh38
NC_000008.10:g.100880460T>C , CM000670.1:g.100880460T>C	GRCh37
NC_000008.9:g.100949636T>C	NCBI36
NG_007098.2:g.859967T>C , LRG_351:g.859967T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*385-57T>C	ENSP00000507923.1:n.*385-57T>C
ENST00000682358.1:n.11361-57T>C
ENST00000683334.1:c.*6973-57T>C	ENSP00000507369.1:n.*6973-57T>C
ENST00000357162.7:c.11216-57T>C MANE Select	ENSP00000349685.2:n.11216-57T>C
ENST00000358544.7:c.11291-57T>C MANE Plus Clinical	ENSP00000351346.2:n.11291-57T>C
ENST00000357162.6:c.11216-57T>C	ENSP00000349685.2:n.11216-57T>C
ENST00000358544.6:c.11291-57T>C	ENSP00000351346.2:n.11291-57T>C
ENST00000493587.1:n.176T>C
NM_017890.4:c.11291-57T>C , LRG_351t1:c.11291-57T>C	NP_060360.3:n.11291-57T>C
NM_152564.4:c.11216-57T>C , LRG_351t2:c.11216-57T>C	NP_689777.3:n.11216-57T>C
XM_005250800.2:c.11291-57T>C	XP_005250857.1:n.11291-57T>C
XM_005250801.3:c.11291-57T>C	XP_005250858.1:n.11291-57T>C
XM_011516848.1:c.11288-57T>C	XP_011515150.1:n.11288-57T>C
XM_011516849.1:c.11213-57T>C	XP_011515151.1:n.11213-57T>C
XM_011516850.1:c.10913-57T>C	XP_011515152.1:n.10913-57T>C
XM_011516851.1:c.8177-57T>C	XP_011515153.1:n.8177-57T>C
XM_011516852.1:c.8177-57T>C	XP_011515154.1:n.8177-57T>C
XM_011516854.1:c.7070-57T>C	XP_011515156.1:n.7070-57T>C
XM_005250800.3:c.11291-57T>C	XP_005250857.1:n.11291-57T>C
XM_005250801.5:c.11291-57T>C	XP_005250858.1:n.11291-57T>C
XM_011516848.2:c.11288-57T>C	XP_011515150.1:n.11288-57T>C
XM_011516849.2:c.11213-57T>C	XP_011515151.1:n.11213-57T>C
XM_011516850.2:c.10913-57T>C	XP_011515152.1:n.10913-57T>C
XM_011516851.2:c.8177-57T>C	XP_011515153.1:n.8177-57T>C
XM_011516852.2:c.8177-57T>C	XP_011515154.1:n.8177-57T>C
XM_011516854.2:c.7070-57T>C	XP_011515156.1:n.7070-57T>C
XM_017013109.1:c.11096-57T>C	XP_016868598.1:n.11096-57T>C
XM_017013111.1:c.8177-57T>C	XP_016868600.1:n.8177-57T>C
XM_017013112.1:c.6848-57T>C	XP_016868601.1:n.6848-57T>C
XM_024447074.1:c.10076-57T>C	XP_024302842.1:n.10076-57T>C
NM_017890.5:c.11291-57T>C MANE Plus Clinical	NP_060360.3:n.11291-57T>C
NM_152564.5:c.11216-57T>C MANE Select	NP_689777.3:n.11216-57T>C