Canonical Allele Identifier: CA16041254
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 371391
ClinVar RCV Id: RCV000410167
dbSNP Id: rs1057517236
MyVariant Identifiers: chr8:g.100831118T>G (hg19) chr8:g.99818890T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99818890T>G , CM000670.2:g.99818890T>G GRCh38
NC_000008.10:g.100831118T>G , CM000670.1:g.100831118T>G GRCh37
NC_000008.9:g.100900294T>G NCBI36
NG_007098.2:g.810625T>G , LRG_351:g.810625T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000682153.1:c.8696+2T>G ENSP00000507923.1:n.8696+2T>G
ENST00000682358.1:n.8766+2T>G
ENST00000683334.1:c.*4378+2T>G ENSP00000507369.1:n.*4378+2T>G
ENST00000357162.7:c.8621+2T>G MANE Select ENSP00000349685.2:n.8621+2T>G
ENST00000358544.7:c.8696+2T>G MANE Plus Clinical ENSP00000351346.2:n.8696+2T>G
ENST00000357162.6:c.8621+2T>G ENSP00000349685.2:n.8621+2T>G
ENST00000358544.6:c.8696+2T>G ENSP00000351346.2:n.8696+2T>G
NM_017890.4:c.8696+2T>G , LRG_351t1:c.8696+2T>G NP_060360.3:n.8696+2T>G
NM_152564.4:c.8621+2T>G , LRG_351t2:c.8621+2T>G NP_689777.3:n.8621+2T>G
XM_005250800.2:c.8696+2T>G XP_005250857.1:n.8696+2T>G
XM_005250801.3:c.8696+2T>G XP_005250858.1:n.8696+2T>G
XM_011516848.1:c.8693+2T>G XP_011515150.1:n.8693+2T>G
XM_011516849.1:c.8618+2T>G XP_011515151.1:n.8618+2T>G
XM_011516850.1:c.8318+2T>G XP_011515152.1:n.8318+2T>G
XM_011516851.1:c.5582+2T>G XP_011515153.1:n.5582+2T>G
XM_011516852.1:c.5582+2T>G XP_011515154.1:n.5582+2T>G
XM_011516854.1:c.4475+2T>G XP_011515156.1:n.4475+2T>G
XM_005250800.3:c.8696+2T>G XP_005250857.1:n.8696+2T>G
XM_005250801.5:c.8696+2T>G XP_005250858.1:n.8696+2T>G
XM_011516848.2:c.8693+2T>G XP_011515150.1:n.8693+2T>G
XM_011516849.2:c.8618+2T>G XP_011515151.1:n.8618+2T>G
XM_011516850.2:c.8318+2T>G XP_011515152.1:n.8318+2T>G
XM_011516851.2:c.5582+2T>G XP_011515153.1:n.5582+2T>G
XM_011516852.2:c.5582+2T>G XP_011515154.1:n.5582+2T>G
XM_011516854.2:c.4475+2T>G XP_011515156.1:n.4475+2T>G
XM_017013109.1:c.8501+2T>G XP_016868598.1:n.8501+2T>G
XM_017013111.1:c.5582+2T>G XP_016868600.1:n.5582+2T>G
XM_017013112.1:c.4253+2T>G XP_016868601.1:n.4253+2T>G
XM_024447074.1:c.7481+2T>G XP_024302842.1:n.7481+2T>G
NM_017890.5:c.8696+2T>G MANE Plus Clinical NP_060360.3:n.8696+2T>G
NM_152564.5:c.8621+2T>G MANE Select NP_689777.3:n.8621+2T>G
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