Canonical Allele Identifier: CA16041269
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370373
ClinVar RCV Id: RCV000411447
dbSNP Id: rs1057516437
MyVariant Identifiers: chr8:g.100865723T>G (hg19) chr8:g.99853495T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99853495T>G , CM000670.2:g.99853495T>G GRCh38
NC_000008.10:g.100865723T>G , CM000670.1:g.100865723T>G GRCh37
NC_000008.9:g.100934899T>G NCBI36
NG_007098.2:g.845230T>G , LRG_351:g.845230T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.10181T>G ENSP00000507923.1:p.Leu3394Ter
ENST00000682358.1:n.10251T>G
ENST00000683334.1:c.*5863T>G ENSP00000507369.1:n.*5863T>G
ENST00000357162.7:c.10106T>G MANE Select ENSP00000349685.2:p.Leu3369Ter
ENST00000358544.7:c.10181T>G MANE Plus Clinical ENSP00000351346.2:p.Leu3394Ter
ENST00000357162.6:c.10106T>G ENSP00000349685.2:p.Leu3369Ter
ENST00000358544.6:c.10181T>G ENSP00000351346.2:p.Leu3394Ter
NM_017890.4:c.10181T>G , LRG_351t1:c.10181T>G NP_060360.3:p.Leu3394Ter
NM_152564.4:c.10106T>G , LRG_351t2:c.10106T>G NP_689777.3:p.Leu3369Ter
XM_005250800.2:c.10181T>G XP_005250857.1:p.Leu3394Ter
XM_005250801.3:c.10181T>G XP_005250858.1:p.Leu3394Ter
XM_011516848.1:c.10178T>G XP_011515150.1:p.Leu3393Ter
XM_011516849.1:c.10103T>G XP_011515151.1:p.Leu3368Ter
XM_011516850.1:c.9803T>G XP_011515152.1:p.Leu3268Ter
XM_011516851.1:c.7067T>G XP_011515153.1:p.Leu2356Ter
XM_011516852.1:c.7067T>G XP_011515154.1:p.Leu2356Ter
XM_011516854.1:c.5960T>G XP_011515156.1:p.Leu1987Ter
XM_005250800.3:c.10181T>G XP_005250857.1:p.Leu3394Ter
XM_005250801.5:c.10181T>G XP_005250858.1:p.Leu3394Ter
XM_011516848.2:c.10178T>G XP_011515150.1:p.Leu3393Ter
XM_011516849.2:c.10103T>G XP_011515151.1:p.Leu3368Ter
XM_011516850.2:c.9803T>G XP_011515152.1:p.Leu3268Ter
XM_011516851.2:c.7067T>G XP_011515153.1:p.Leu2356Ter
XM_011516852.2:c.7067T>G XP_011515154.1:p.Leu2356Ter
XM_011516854.2:c.5960T>G XP_011515156.1:p.Leu1987Ter
XM_017013109.1:c.9986T>G XP_016868598.1:p.Leu3329Ter
XM_017013111.1:c.7067T>G XP_016868600.1:p.Leu2356Ter
XM_017013112.1:c.5738T>G XP_016868601.1:p.Leu1913Ter
XM_024447074.1:c.8966T>G XP_024302842.1:p.Leu2989Ter
NM_017890.5:c.10181T>G MANE Plus Clinical NP_060360.3:p.Leu3394Ter
NM_152564.5:c.10106T>G MANE Select NP_689777.3:p.Leu3369Ter
Search 100 bp 5'
Search 100 bp 3'