Linked Data
ClinVar Variation Id:
224823
ClinVar RCV Id:
RCV000210380
dbSNP Id:
rs755579388
ExAC:
9:4583108 G / A
gnomAD v2:
9-4583108-G-A
gnomAD v4:
9-4583108-G-A
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4583108G>A , CM000671.2:g.4583108G>A | GRCh38 |
| NC_000009.11:g.4583108G>A , CM000671.1:g.4583108G>A | GRCh37 |
| NC_000009.10:g.4573108G>A | NCBI36 |
| NG_017044.1:g.97682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.1264G>A (SLC1A1) MANE Select | ENSP00000262352.3:p.Val422Met | |
| ENST00000262352.7:c.1264G>A (SLC1A1) | ENSP00000262352.3:p.Val422Met | |
| ENST00000422398.1:c.481-2204G>A (SLC1A1) | ||
| ENST00000485616.5:c.*781+17545C>T (SPATA6L) | ENSP00000420003.1:n.*781+17545C>T | |
| NM_004170.5:c.1264G>A (SLC1A1) | NP_004161.4:p.Val422Met | |
| XM_011518007.1:c.1333G>A (SLC1A1) | XP_011516309.1:p.Val445Met | |
| XM_011518008.1:c.1273G>A (SLC1A1) | XP_011516310.1:p.Val425Met | |
| XM_011518009.1:c.1204G>A (SLC1A1) | XP_011516311.1:p.Val402Met | |
| XM_011518010.1:c.1123G>A (SLC1A1) | XP_011516312.1:p.Val375Met | |
| XM_011518008.3:c.1273G>A (SLC1A1) | XP_011516310.1:p.Val425Met | |
| XM_011518009.3:c.1204G>A (SLC1A1) | XP_011516311.1:p.Val402Met | |
| XM_017014882.2:c.*1+21071C>T (SPATA6L) | XP_016870371.1:n.*1+21071C>T | |
| XM_017015042.1:c.1225G>A (SLC1A1) | XP_016870531.1:p.Val409Met | |
| XM_017015043.1:c.1156G>A (SLC1A1) | XP_016870532.1:p.Val386Met | |
| XR_001746335.2:n.1478+17545C>T (SPATA6L) | ||
| NM_004170.6:c.1264G>A (SLC1A1) MANE Select | NP_004161.4:p.Val422Met |