Canonical Allele Identifier: CA5093361
Gene: VPS13A HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.77353446T>C
GRCh37 chr9:g.79968362T>C
Revel Score:
ENST00000376634 0.171
ENST00000376636 0.171
ENST00000360280 (MANE Select) 0.171
ENST00000357409 0.171
gnomAD v2:
9:79968362 T / C
gnomAD v3:
9:77353446 T / C
gnomAD v4:
chr9-77353446-T-C
Joint Max Group AF 0.00263494 (AMR)
Genomes Max Group AF 0.00395574 (AMR)
Exomes Max Group AF 0.00200927 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.77353446T>C , CM000671.2:g.77353446T>C GRCh38
NC_000009.11:g.79968362T>C , CM000671.1:g.79968362T>C GRCh37
NC_000009.10:g.79158182T>C NCBI36
NG_008931.1:g.181002T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360280.8:c.7457T>C MANE Select ENSP00000353422.3:p.Ile2486Thr
ENST00000643348.1:c.7457T>C ENSP00000493592.1:p.Ile2486Thr
ENST00000645632.1:c.7457T>C ENSP00000496361.1:p.Ile2486Thr
ENST00000355766.5:n.568T>C
ENST00000357409.9:c.7457T>C ENSP00000349985.5:p.Ile2486Thr
ENST00000360280.7:c.7457T>C ENSP00000353422.3:p.Ile2486Thr
ENST00000376634.8:c.7457T>C ENSP00000365821.4:p.Ile2486Thr
ENST00000376636.7:c.7340T>C ENSP00000365823.3:p.Ile2447Thr
NM_001018037.1:c.7340T>C NP_001018047.1:p.Ile2447Thr
NM_001018038.2:c.7457T>C NP_001018048.1:p.Ile2486Thr
NM_015186.3:c.7457T>C NP_056001.1:p.Ile2486Thr
NM_033305.2:c.7457T>C NP_150648.2:p.Ile2486Thr
XR_242579.2:n.7809T>C
XR_242580.3:n.7809T>C
XR_929740.1:n.7809T>C
XR_001746259.1:n.7809T>C
XR_001746260.1:n.7809T>C
NM_033305.3:c.7457T>C MANE Select NP_150648.2:p.Ile2486Thr
NM_001018037.2:c.7340T>C NP_001018047.1:p.Ile2447Thr
NM_001018038.3:c.7457T>C NP_001018048.1:p.Ile2486Thr
NM_015186.4:c.7457T>C NP_056001.1:p.Ile2486Thr
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