Canonical Allele Identifier: CA371790550

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861860-G-T
• MyVariant Identifiers: chr8:g.100874088G>T (hg19) ; chr8:g.99861860G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*298G>T	ENSP00000507923.1:n.*298G>T
ENST00000682358.1:n.11274G>T
ENST00000683334.1:c.*6886G>T	ENSP00000507369.1:n.*6886G>T
ENST00000357162.7:c.11129G>T MANE Select	ENSP00000349685.2:p.Arg3710Leu
ENST00000358544.7:c.11204G>T MANE Plus Clinical	ENSP00000351346.2:p.Arg3735Leu
ENST00000357162.6:c.11129G>T	ENSP00000349685.2:p.Arg3710Leu
ENST00000358544.6:c.11204G>T	ENSP00000351346.2:p.Arg3735Leu
NM_017890.4:c.11204G>T , LRG_351t1:c.11204G>T	NP_060360.3:p.Arg3735Leu
NM_152564.4:c.11129G>T , LRG_351t2:c.11129G>T	NP_689777.3:p.Arg3710Leu
XM_005250800.2:c.11204G>T	XP_005250857.1:p.Arg3735Leu
XM_005250801.3:c.11204G>T	XP_005250858.1:p.Arg3735Leu
XM_011516848.1:c.11201G>T	XP_011515150.1:p.Arg3734Leu
XM_011516849.1:c.11126G>T	XP_011515151.1:p.Arg3709Leu
XM_011516850.1:c.10826G>T	XP_011515152.1:p.Arg3609Leu
XM_011516851.1:c.8090G>T	XP_011515153.1:p.Arg2697Leu
XM_011516852.1:c.8090G>T	XP_011515154.1:p.Arg2697Leu
XM_011516854.1:c.6983G>T	XP_011515156.1:p.Arg2328Leu
XM_005250800.3:c.11204G>T	XP_005250857.1:p.Arg3735Leu
XM_005250801.5:c.11204G>T	XP_005250858.1:p.Arg3735Leu
XM_011516848.2:c.11201G>T	XP_011515150.1:p.Arg3734Leu
XM_011516849.2:c.11126G>T	XP_011515151.1:p.Arg3709Leu
XM_011516850.2:c.10826G>T	XP_011515152.1:p.Arg3609Leu
XM_011516851.2:c.8090G>T	XP_011515153.1:p.Arg2697Leu
XM_011516852.2:c.8090G>T	XP_011515154.1:p.Arg2697Leu
XM_011516854.2:c.6983G>T	XP_011515156.1:p.Arg2328Leu
XM_017013109.1:c.11009G>T	XP_016868598.1:p.Arg3670Leu
XM_017013111.1:c.8090G>T	XP_016868600.1:p.Arg2697Leu
XM_017013112.1:c.6761G>T	XP_016868601.1:p.Arg2254Leu
XM_024447074.1:c.9989G>T	XP_024302842.1:p.Arg3330Leu
NM_017890.5:c.11204G>T MANE Plus Clinical	NP_060360.3:p.Arg3735Leu
NM_152564.5:c.11129G>T MANE Select	NP_689777.3:p.Arg3710Leu