Canonical Allele Identifier: CA371790637

Gene: VPS13B

Linked Data

• MyVariant Identifiers: chr8:g.100874110G>C (hg19) ; chr8:g.99861882G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861882G>C , CM000670.2:g.99861882G>C	GRCh38
NC_000008.10:g.100874110G>C , CM000670.1:g.100874110G>C	GRCh37
NC_000008.9:g.100943286G>C	NCBI36
NG_007098.2:g.853617G>C , LRG_351:g.853617G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*320G>C	ENSP00000507923.1:n.*320G>C
ENST00000682358.1:n.11296G>C
ENST00000683334.1:c.*6908G>C	ENSP00000507369.1:n.*6908G>C
ENST00000357162.7:c.11151G>C MANE Select	ENSP00000349685.2:p.Gln3717His
ENST00000358544.7:c.11226G>C MANE Plus Clinical	ENSP00000351346.2:p.Gln3742His
ENST00000357162.6:c.11151G>C	ENSP00000349685.2:p.Gln3717His
ENST00000358544.6:c.11226G>C	ENSP00000351346.2:p.Gln3742His
NM_017890.4:c.11226G>C , LRG_351t1:c.11226G>C	NP_060360.3:p.Gln3742His
NM_152564.4:c.11151G>C , LRG_351t2:c.11151G>C	NP_689777.3:p.Gln3717His
XM_005250800.2:c.11226G>C	XP_005250857.1:p.Gln3742His
XM_005250801.3:c.11226G>C	XP_005250858.1:p.Gln3742His
XM_011516848.1:c.11223G>C	XP_011515150.1:p.Gln3741His
XM_011516849.1:c.11148G>C	XP_011515151.1:p.Gln3716His
XM_011516850.1:c.10848G>C	XP_011515152.1:p.Gln3616His
XM_011516851.1:c.8112G>C	XP_011515153.1:p.Gln2704His
XM_011516852.1:c.8112G>C	XP_011515154.1:p.Gln2704His
XM_011516854.1:c.7005G>C	XP_011515156.1:p.Gln2335His
XM_005250800.3:c.11226G>C	XP_005250857.1:p.Gln3742His
XM_005250801.5:c.11226G>C	XP_005250858.1:p.Gln3742His
XM_011516848.2:c.11223G>C	XP_011515150.1:p.Gln3741His
XM_011516849.2:c.11148G>C	XP_011515151.1:p.Gln3716His
XM_011516850.2:c.10848G>C	XP_011515152.1:p.Gln3616His
XM_011516851.2:c.8112G>C	XP_011515153.1:p.Gln2704His
XM_011516852.2:c.8112G>C	XP_011515154.1:p.Gln2704His
XM_011516854.2:c.7005G>C	XP_011515156.1:p.Gln2335His
XM_017013109.1:c.11031G>C	XP_016868598.1:p.Gln3677His
XM_017013111.1:c.8112G>C	XP_016868600.1:p.Gln2704His
XM_017013112.1:c.6783G>C	XP_016868601.1:p.Gln2261His
XM_024447074.1:c.10011G>C	XP_024302842.1:p.Gln3337His
NM_017890.5:c.11226G>C MANE Plus Clinical	NP_060360.3:p.Gln3742His
NM_152564.5:c.11151G>C MANE Select	NP_689777.3:p.Gln3717His