Linked Data
ClinVar Variation Id:
155859
ClinVar RCV Id:
RCV000143976
dbSNP Id:
rs587777696
ExAC:
9:4585316 C / T
gnomAD v2:
9-4585316-C-T
gnomAD v4:
9-4585316-C-T
COSMIC:
COSM3657631
PubMed:
PMID:21123949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4585316C>T , CM000671.2:g.4585316C>T | GRCh38 |
| NC_000009.11:g.4585316C>T , CM000671.1:g.4585316C>T | GRCh37 |
| NC_000009.10:g.4575316C>T | NCBI36 |
| NG_017044.1:g.99890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262352.8:c.1333C>T (SLC1A1) MANE Select | ENSP00000262352.3:p.Arg445Trp | |
| ENST00000262352.7:c.1333C>T (SLC1A1) | ENSP00000262352.3:p.Arg445Trp | |
| ENST00000422398.1:c.485C>T (SLC1A1) | ||
| ENST00000485616.5:c.*781+15337G>A (SPATA6L) | ENSP00000420003.1:n.*781+15337G>A | |
| NM_004170.5:c.1333C>T (SLC1A1) | NP_004161.4:p.Arg445Trp | |
| XM_011518007.1:c.1402C>T (SLC1A1) | XP_011516309.1:p.Arg468Trp | |
| XM_011518008.1:c.1342C>T (SLC1A1) | XP_011516310.1:p.Arg448Trp | |
| XM_011518009.1:c.1273C>T (SLC1A1) | XP_011516311.1:p.Arg425Trp | |
| XM_011518010.1:c.1192C>T (SLC1A1) | XP_011516312.1:p.Arg398Trp | |
| XM_011518008.3:c.1342C>T (SLC1A1) | XP_011516310.1:p.Arg448Trp | |
| XM_011518009.3:c.1273C>T (SLC1A1) | XP_011516311.1:p.Arg425Trp | |
| XM_017014882.2:c.*1+18863G>A (SPATA6L) | XP_016870371.1:n.*1+18863G>A | |
| XM_017015042.1:c.1294C>T (SLC1A1) | XP_016870531.1:p.Arg432Trp | |
| XM_017015043.1:c.1225C>T (SLC1A1) | XP_016870532.1:p.Arg409Trp | |
| XR_001746335.2:n.1478+15337G>A (SPATA6L) | ||
| NM_004170.6:c.1333C>T (SLC1A1) MANE Select | NP_004161.4:p.Arg445Trp |