Linked Data
dbSNP Id:
rs1332297005
gnomAD v2:
7-107571826-G-T
gnomAD v3:
7-107931381-G-T
gnomAD v4:
7-107931381-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107931381G>T , CM000669.2:g.107931381G>T | GRCh38 |
| NC_000007.13:g.107571826G>T , CM000669.1:g.107571826G>T | GRCh37 |
| NC_000007.12:g.107359062G>T | NCBI36 |
| NG_023255.1:g.76979C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4512C>A (LAMB1) MANE Select | ENSP00000222399.6:p.Ile1504= | |
| ENST00000393561.6:c.4101C>A (LAMB1) | ENSP00000377191.2:p.Ile1367= | |
| ENST00000468518.2:n.2746C>A (LAMB1) | ||
| ENST00000468999.2:n.2660C>A (LAMB1) | ||
| ENST00000474380.2:n.1327C>A (LAMB1) | ||
| ENST00000676574.1:c.*428C>A (LAMB1) | ENSP00000503081.1:n.*428C>A | |
| ENST00000676744.1:n.358C>A (LAMB1) | ||
| ENST00000676777.1:c.4512C>A (LAMB1) | ENSP00000504756.1:p.Ile1504= | |
| ENST00000677101.1:c.*4148C>A (LAMB1) | ENSP00000503156.1:n.*4148C>A | |
| ENST00000677144.1:c.*1331C>A (LAMB1) | ENSP00000503049.1:n.*1331C>A | |
| ENST00000677485.1:n.5736C>A (LAMB1) | ||
| ENST00000677588.1:c.*743C>A (LAMB1) | ENSP00000502938.1:n.*743C>A | |
| ENST00000677793.1:c.4200C>A (LAMB1) | ENSP00000504020.1:p.Ile1400= | |
| ENST00000677801.1:c.*341C>A (LAMB1) | ENSP00000503438.1:n.*341C>A | |
| ENST00000677883.1:n.23C>A (LAMB1) | ||
| ENST00000678232.1:n.4701C>A (LAMB1) | ||
| ENST00000678310.1:n.2681C>A (LAMB1) | ||
| ENST00000678698.1:c.*584C>A (LAMB1) | ENSP00000503198.1:n.*584C>A | |
| ENST00000678704.1:c.*3094C>A (LAMB1) | ENSP00000504589.1:n.*3094C>A | |
| ENST00000678892.1:c.*584C>A (LAMB1) | ENSP00000504841.1:n.*584C>A | |
| ENST00000679200.1:c.*584C>A (LAMB1) | ENSP00000503498.1:n.*584C>A | |
| ENST00000222399.10:c.4512C>A (LAMB1) | ENSP00000222399.6:p.Ile1504= | |
| ENST00000393561.5:c.4584C>A (LAMB1) | ENSP00000377191.1:p.Ile1528= | |
| ENST00000417551.5:c.*125-50G>T (DLD) | ENSP00000390667.1:n.*125-50G>T | |
| ENST00000468518.1:n.571C>A (LAMB1) | ||
| ENST00000474380.1:n.749C>A (LAMB1) | ||
| NM_002291.2:c.4512C>A (LAMB1) | NP_002282.2:p.Ile1504= | |
| XM_017012201.1:c.4584C>A (LAMB1) | XP_016867690.1:p.Ile1528= | |
| XR_001744756.1:n.5431C>A (LAMB1) | ||
| NM_002291.3:c.4512C>A (LAMB1) MANE Select | NP_002282.2:p.Ile1504= |