Linked Data
ClinVar Variation Id:
1951591
ClinVar RCV Id:
RCV002686277
dbSNP Id:
rs139220200
gnomAD v2:
7-107571911-T-G
gnomAD v3:
7-107931466-T-G
gnomAD v4:
7-107931466-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107931466T>G , CM000669.2:g.107931466T>G | GRCh38 |
| NC_000007.13:g.107571911T>G , CM000669.1:g.107571911T>G | GRCh37 |
| NC_000007.12:g.107359147T>G | NCBI36 |
| NG_023255.1:g.76894A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4427A>C (LAMB1) MANE Select | ENSP00000222399.6:p.Lys1476Thr | |
| ENST00000393561.6:c.4016A>C (LAMB1) | ENSP00000377191.2:p.Lys1339Thr | |
| ENST00000468518.2:n.2661A>C (LAMB1) | ||
| ENST00000468999.2:n.2575A>C (LAMB1) | ||
| ENST00000474380.2:n.1242A>C (LAMB1) | ||
| ENST00000676574.1:c.*343A>C (LAMB1) | ENSP00000503081.1:n.*343A>C | |
| ENST00000676744.1:n.273A>C (LAMB1) | ||
| ENST00000676777.1:c.4427A>C (LAMB1) | ENSP00000504756.1:p.Lys1476Thr | |
| ENST00000677101.1:c.*4063A>C (LAMB1) | ENSP00000503156.1:n.*4063A>C | |
| ENST00000677144.1:c.*1246A>C (LAMB1) | ENSP00000503049.1:n.*1246A>C | |
| ENST00000677485.1:n.5651A>C (LAMB1) | ||
| ENST00000677588.1:c.*658A>C (LAMB1) | ENSP00000502938.1:n.*658A>C | |
| ENST00000677793.1:c.4115A>C (LAMB1) | ENSP00000504020.1:p.Lys1372Thr | |
| ENST00000677801.1:c.*256A>C (LAMB1) | ENSP00000503438.1:n.*256A>C | |
| ENST00000678232.1:n.4616A>C (LAMB1) | ||
| ENST00000678310.1:n.2596A>C (LAMB1) | ||
| ENST00000678698.1:c.*499A>C (LAMB1) | ENSP00000503198.1:n.*499A>C | |
| ENST00000678704.1:c.*3009A>C (LAMB1) | ENSP00000504589.1:n.*3009A>C | |
| ENST00000678892.1:c.*499A>C (LAMB1) | ENSP00000504841.1:n.*499A>C | |
| ENST00000679200.1:c.*499A>C (LAMB1) | ENSP00000503498.1:n.*499A>C | |
| ENST00000222399.10:c.4427A>C (LAMB1) | ENSP00000222399.6:p.Lys1476Thr | |
| ENST00000393561.5:c.4499A>C (LAMB1) | ENSP00000377191.1:p.Lys1500Thr | |
| ENST00000417551.5:c.*160T>G (DLD) | ENSP00000390667.1:n.*160T>G | |
| ENST00000468518.1:n.486A>C (LAMB1) | ||
| ENST00000474380.1:n.664A>C (LAMB1) | ||
| NM_002291.2:c.4427A>C (LAMB1) | NP_002282.2:p.Lys1476Thr | |
| XM_017012201.1:c.4499A>C (LAMB1) | XP_016867690.1:p.Lys1500Thr | |
| XR_001744756.1:n.5346A>C (LAMB1) | ||
| NM_002291.3:c.4427A>C (LAMB1) MANE Select | NP_002282.2:p.Lys1476Thr |