Canonical Allele Identifier: CA16603161
Gene: VPS13A HGNC NCBI

Linked Data

ClinVar Variation Id: 376770
ClinVar RCV Id: RCV000440207
dbSNP Id: rs1057520049
MyVariant Identifiers: chr9:g.79975555G>T (hg19) chr9:g.77360639G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77360639G>T , CM000671.2:g.77360639G>T GRCh38
NC_000009.11:g.79975555G>T , CM000671.1:g.79975555G>T GRCh37
NC_000009.10:g.79165375G>T NCBI36
NG_008931.1:g.188195G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360280.8:c.8209G>T MANE Select ENSP00000353422.3:p.Glu2737Ter
ENST00000643348.1:c.8209G>T ENSP00000493592.1:p.Glu2737Ter
ENST00000645632.1:c.8209G>T ENSP00000496361.1:p.Glu2737Ter
ENST00000357409.9:c.8209G>T ENSP00000349985.5:p.Glu2737Ter
ENST00000360280.7:c.8209G>T ENSP00000353422.3:p.Glu2737Ter
ENST00000376634.8:c.8209G>T ENSP00000365821.4:p.Glu2737Ter
ENST00000376636.7:c.8092G>T ENSP00000365823.3:p.Glu2698Ter
NM_001018037.1:c.8092G>T NP_001018047.1:p.Glu2698Ter
NM_001018038.2:c.8209G>T NP_001018048.1:p.Glu2737Ter
NM_015186.3:c.8209G>T NP_056001.1:p.Glu2737Ter
NM_033305.2:c.8209G>T NP_150648.2:p.Glu2737Ter
XR_242579.2:n.8561G>T
XR_242580.3:n.8561G>T
XR_929740.1:n.8561G>T
XR_001746259.1:n.8561G>T
XR_001746260.1:n.8561G>T
NM_033305.3:c.8209G>T MANE Select NP_150648.2:p.Glu2737Ter
NM_001018037.2:c.8092G>T NP_001018047.1:p.Glu2698Ter
NM_001018038.3:c.8209G>T NP_001018048.1:p.Glu2737Ter
NM_015186.4:c.8209G>T NP_056001.1:p.Glu2737Ter
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