Canonical Allele Identifier: CA371790352

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861818-G-T
• MyVariant Identifiers: chr8:g.100874046G>T (hg19) ; chr8:g.99861818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861818G>T , CM000670.2:g.99861818G>T	GRCh38
NC_000008.10:g.100874046G>T , CM000670.1:g.100874046G>T	GRCh37
NC_000008.9:g.100943222G>T	NCBI36
NG_007098.2:g.853553G>T , LRG_351:g.853553G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*256G>T	ENSP00000507923.1:n.*256G>T
ENST00000682358.1:n.11232G>T
ENST00000683334.1:c.*6844G>T	ENSP00000507369.1:n.*6844G>T
ENST00000357162.7:c.11087G>T MANE Select	ENSP00000349685.2:p.Arg3696Leu
ENST00000358544.7:c.11162G>T MANE Plus Clinical	ENSP00000351346.2:p.Arg3721Leu
ENST00000357162.6:c.11087G>T	ENSP00000349685.2:p.Arg3696Leu
ENST00000358544.6:c.11162G>T	ENSP00000351346.2:p.Arg3721Leu
NM_017890.4:c.11162G>T , LRG_351t1:c.11162G>T	NP_060360.3:p.Arg3721Leu
NM_152564.4:c.11087G>T , LRG_351t2:c.11087G>T	NP_689777.3:p.Arg3696Leu
XM_005250800.2:c.11162G>T	XP_005250857.1:p.Arg3721Leu
XM_005250801.3:c.11162G>T	XP_005250858.1:p.Arg3721Leu
XM_011516848.1:c.11159G>T	XP_011515150.1:p.Arg3720Leu
XM_011516849.1:c.11084G>T	XP_011515151.1:p.Arg3695Leu
XM_011516850.1:c.10784G>T	XP_011515152.1:p.Arg3595Leu
XM_011516851.1:c.8048G>T	XP_011515153.1:p.Arg2683Leu
XM_011516852.1:c.8048G>T	XP_011515154.1:p.Arg2683Leu
XM_011516854.1:c.6941G>T	XP_011515156.1:p.Arg2314Leu
XM_005250800.3:c.11162G>T	XP_005250857.1:p.Arg3721Leu
XM_005250801.5:c.11162G>T	XP_005250858.1:p.Arg3721Leu
XM_011516848.2:c.11159G>T	XP_011515150.1:p.Arg3720Leu
XM_011516849.2:c.11084G>T	XP_011515151.1:p.Arg3695Leu
XM_011516850.2:c.10784G>T	XP_011515152.1:p.Arg3595Leu
XM_011516851.2:c.8048G>T	XP_011515153.1:p.Arg2683Leu
XM_011516852.2:c.8048G>T	XP_011515154.1:p.Arg2683Leu
XM_011516854.2:c.6941G>T	XP_011515156.1:p.Arg2314Leu
XM_017013109.1:c.10967G>T	XP_016868598.1:p.Arg3656Leu
XM_017013111.1:c.8048G>T	XP_016868600.1:p.Arg2683Leu
XM_017013112.1:c.6719G>T	XP_016868601.1:p.Arg2240Leu
XM_024447074.1:c.9947G>T	XP_024302842.1:p.Arg3316Leu
NM_017890.5:c.11162G>T MANE Plus Clinical	NP_060360.3:p.Arg3721Leu
NM_152564.5:c.11087G>T MANE Select	NP_689777.3:p.Arg3696Leu