Linked Data
ClinVar Variation Id:
538126
dbSNP Id:
rs528532732
ExAC:
5:16616995 G / A
gnomAD v2:
5-16616995-G-A
gnomAD v3:
5-16616886-G-A
gnomAD v4:
5-16616886-G-A
COSMIC:
COSM1619993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16616886G>A , CM000667.2:g.16616886G>A | GRCh38 |
| NC_000005.9:g.16616995G>A , CM000667.1:g.16616995G>A | GRCh37 |
| NC_000005.8:g.16669995G>A | NCBI36 |
| NG_016644.2:g.5124C>T , LRG_363:g.5124C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509048.2:n.116C>T (RETREG1) | ||
| ENST00000682229.1:c.86C>T (RETREG1) | ENSP00000507342.1:p.Pro29Leu | |
| ENST00000682564.1:c.86C>T (RETREG1) | ENSP00000508099.1:p.Pro29Leu | |
| ENST00000682808.1:n.153C>T (RETREG1) | ||
| ENST00000682828.1:n.83C>T (RETREG1) | ||
| ENST00000682982.1:n.109C>T (RETREG1) | ||
| ENST00000683045.1:n.112C>T (RETREG1) | ||
| ENST00000683527.1:c.86C>T (RETREG1) | ENSP00000507253.1:p.Pro29Leu | |
| ENST00000683973.1:n.112C>T (RETREG1) | ||
| ENST00000684521.1:c.86C>T (RETREG1) | ENSP00000507521.1:p.Pro29Leu | |
| ENST00000684695.1:n.104C>T (RETREG1) | ||
| ENST00000306320.10:c.86C>T (RETREG1) MANE Select | ENSP00000304642.9:p.Pro29Leu | |
| ENST00000306320.9:c.86C>T (RETREG1) | ENSP00000304642.9:p.Pro29Leu | |
| ENST00000509048.1:n.153C>T (RETREG1) | ||
| NM_001034850.2:c.86C>T , LRG_363t1:c.86C>T (RETREG1) | NP_001030022.1:p.Pro29Leu | |
| NR_109946.1:n.561+400G>A (RETREG1-AS1) | ||
| XM_011514053.1:c.86C>T (RETREG1) | XP_011512355.1:p.Pro29Leu | |
| XM_011514053.3:c.86C>T (RETREG1) | XP_011512355.1:p.Pro29Leu | |
| NM_001034850.3:c.86C>T (RETREG1) MANE Select | NP_001030022.1:p.Pro29Leu |