Canonical Allele Identifier: CA182321460

Gene: VPS13B

Linked Data

• dbSNP Id: rs987017060
• MyVariant Identifiers: chr8:g.100874088G>C (hg19) ; chr8:g.99861860G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861860G>C , CM000670.2:g.99861860G>C	GRCh38
NC_000008.10:g.100874088G>C , CM000670.1:g.100874088G>C	GRCh37
NC_000008.9:g.100943264G>C	NCBI36
NG_007098.2:g.853595G>C , LRG_351:g.853595G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*298G>C	ENSP00000507923.1:n.*298G>C
ENST00000682358.1:n.11274G>C
ENST00000683334.1:c.*6886G>C	ENSP00000507369.1:n.*6886G>C
ENST00000357162.7:c.11129G>C MANE Select	ENSP00000349685.2:p.Arg3710Pro
ENST00000358544.7:c.11204G>C MANE Plus Clinical	ENSP00000351346.2:p.Arg3735Pro
ENST00000357162.6:c.11129G>C	ENSP00000349685.2:p.Arg3710Pro
ENST00000358544.6:c.11204G>C	ENSP00000351346.2:p.Arg3735Pro
NM_017890.4:c.11204G>C , LRG_351t1:c.11204G>C	NP_060360.3:p.Arg3735Pro
NM_152564.4:c.11129G>C , LRG_351t2:c.11129G>C	NP_689777.3:p.Arg3710Pro
XM_005250800.2:c.11204G>C	XP_005250857.1:p.Arg3735Pro
XM_005250801.3:c.11204G>C	XP_005250858.1:p.Arg3735Pro
XM_011516848.1:c.11201G>C	XP_011515150.1:p.Arg3734Pro
XM_011516849.1:c.11126G>C	XP_011515151.1:p.Arg3709Pro
XM_011516850.1:c.10826G>C	XP_011515152.1:p.Arg3609Pro
XM_011516851.1:c.8090G>C	XP_011515153.1:p.Arg2697Pro
XM_011516852.1:c.8090G>C	XP_011515154.1:p.Arg2697Pro
XM_011516854.1:c.6983G>C	XP_011515156.1:p.Arg2328Pro
XM_005250800.3:c.11204G>C	XP_005250857.1:p.Arg3735Pro
XM_005250801.5:c.11204G>C	XP_005250858.1:p.Arg3735Pro
XM_011516848.2:c.11201G>C	XP_011515150.1:p.Arg3734Pro
XM_011516849.2:c.11126G>C	XP_011515151.1:p.Arg3709Pro
XM_011516850.2:c.10826G>C	XP_011515152.1:p.Arg3609Pro
XM_011516851.2:c.8090G>C	XP_011515153.1:p.Arg2697Pro
XM_011516852.2:c.8090G>C	XP_011515154.1:p.Arg2697Pro
XM_011516854.2:c.6983G>C	XP_011515156.1:p.Arg2328Pro
XM_017013109.1:c.11009G>C	XP_016868598.1:p.Arg3670Pro
XM_017013111.1:c.8090G>C	XP_016868600.1:p.Arg2697Pro
XM_017013112.1:c.6761G>C	XP_016868601.1:p.Arg2254Pro
XM_024447074.1:c.9989G>C	XP_024302842.1:p.Arg3330Pro
NM_017890.5:c.11204G>C MANE Plus Clinical	NP_060360.3:p.Arg3735Pro
NM_152564.5:c.11129G>C MANE Select	NP_689777.3:p.Arg3710Pro