Linked Data
ClinVar Variation Id:
2979088
ClinVar RCV Id:
RCV003831718
dbSNP Id:
rs766113694
gnomAD v2:
7-107569581-G-A
gnomAD v4:
7-107929136-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107929136G>A , CM000669.2:g.107929136G>A | GRCh38 |
| NC_000007.13:g.107569581G>A , CM000669.1:g.107569581G>A | GRCh37 |
| NC_000007.12:g.107356817G>A | NCBI36 |
| NG_023255.1:g.79224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222399.11:c.4815C>T (LAMB1) MANE Select | ENSP00000222399.6:p.Ala1605= | |
| ENST00000393561.6:c.4404C>T (LAMB1) | ENSP00000377191.2:p.Ala1468= | |
| ENST00000468518.2:n.3049C>T (LAMB1) | ||
| ENST00000468999.2:n.2963C>T (LAMB1) | ||
| ENST00000472714.2:n.286C>T (LAMB1) | ||
| ENST00000474380.2:n.1630C>T (LAMB1) | ||
| ENST00000676574.1:c.*731C>T (LAMB1) | ENSP00000503081.1:n.*731C>T | |
| ENST00000676592.1:n.451C>T (LAMB1) | ||
| ENST00000676744.1:n.661C>T (LAMB1) | ||
| ENST00000676777.1:c.4815C>T (LAMB1) | ENSP00000504756.1:p.Ala1605= | |
| ENST00000677101.1:c.*4451C>T (LAMB1) | ENSP00000503156.1:n.*4451C>T | |
| ENST00000677144.1:c.*1634C>T (LAMB1) | ENSP00000503049.1:n.*1634C>T | |
| ENST00000677485.1:n.6039C>T (LAMB1) | ||
| ENST00000677588.1:c.*1046C>T (LAMB1) | ENSP00000502938.1:n.*1046C>T | |
| ENST00000677793.1:c.4503C>T (LAMB1) | ENSP00000504020.1:p.Ala1501= | |
| ENST00000677801.1:c.*644C>T (LAMB1) | ENSP00000503438.1:n.*644C>T | |
| ENST00000677883.1:n.118C>T (LAMB1) | ||
| ENST00000678310.1:n.2984C>T (LAMB1) | ||
| ENST00000678698.1:c.*887C>T (LAMB1) | ENSP00000503198.1:n.*887C>T | |
| ENST00000678704.1:c.*3397C>T (LAMB1) | ENSP00000504589.1:n.*3397C>T | |
| ENST00000678892.1:c.*887C>T (LAMB1) | ENSP00000504841.1:n.*887C>T | |
| ENST00000679200.1:c.*887C>T (LAMB1) | ENSP00000503498.1:n.*887C>T | |
| ENST00000222399.10:c.4815C>T (LAMB1) | ENSP00000222399.6:p.Ala1605= | |
| ENST00000393561.5:c.4887C>T (LAMB1) | ENSP00000377191.1:p.Ala1629= | |
| ENST00000417551.5:c.*125-2295G>A (DLD) | ENSP00000390667.1:n.*125-2295G>A | |
| ENST00000472714.1:n.842C>T (LAMB1) | ||
| NM_002291.2:c.4815C>T (LAMB1) | NP_002282.2:p.Ala1605= | |
| XM_017012201.1:c.4887C>T (LAMB1) | XP_016867690.1:p.Ala1629= | |
| XR_001744756.1:n.5734C>T (LAMB1) | ||
| NM_002291.3:c.4815C>T (LAMB1) MANE Select | NP_002282.2:p.Ala1605= |