Linked Data
ClinVar Variation Id:
542134
ClinVar RCV Id:
RCV000652513
dbSNP Id:
rs781327266
gnomAD v2:
19-18990116-G-A
gnomAD v4:
19-18879307-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18879307G>A , CM000681.2:g.18879307G>A | GRCh38 |
| NC_000019.9:g.18990116G>A , CM000681.1:g.18990116G>A | GRCh37 |
| NC_000019.8:g.18851116G>A | NCBI36 |
| NG_012070.1:g.21838C>T | |
| NG_033056.1:g.21838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623882.4:c.834C>T (CERS1) MANE Select | ENSP00000485308.1:p.Ile278= | |
| ENST00000247005.8:c.-489C>T (GDF1) MANE Select | ENSP00000247005.5:n.-489C>T | |
| ENST00000247005.7:c.-489C>T (GDF1) | ENSP00000247005.5:n.-489C>T | |
| ENST00000429504.6:c.834C>T (CERS1) | ENSP00000389044.1:p.Ile278= | |
| ENST00000542296.6:c.540C>T (CERS1) | ENSP00000437648.1:p.Ile180= | |
| ENST00000596048.1:c.391C>T (CERS1) | ||
| ENST00000623882.3:c.834C>T (CERS1) | ENSP00000485308.1:p.Ile278= | |
| ENST00000623927.1:c.-489C>T (CERS1) | ENSP00000485582.1:n.-489C>T | |
| NM_001290265.1:c.540C>T (CERS1) | NP_001277194.1:p.Ile180= | |
| NM_001492.5:c.-489C>T (GDF1) | NP_001483.3:n.-489C>T | |
| NM_021267.4:c.834C>T (CERS1) | NP_067090.1:p.Ile278= | |
| NM_198207.2:c.834C>T (CERS1) | NP_937850.1:p.Ile278= | |
| NM_001492.6:c.-489C>T (GDF1) MANE Select | NP_001483.3:n.-489C>T | |
| NM_021267.5:c.834C>T (CERS1) MANE Select | NP_067090.1:p.Ile278= | |
| NM_198207.3:c.834C>T (CERS1) | NP_937850.1:p.Ile278= | |
| NM_001290265.2:c.540C>T (CERS1) | NP_001277194.1:p.Ile180= | |
| NM_001387438.1:c.-313+4780C>T (GDF1) | NP_001374367.1:n.-313+4780C>T | |
| NM_001387439.1:c.834C>T (CERS1) | NP_001374368.1:p.Ile278= | |
| NM_001387440.1:c.834C>T (CERS1) | NP_001374369.1:p.Ile278= | |
| NM_001387441.1:c.789C>T (CERS1) | NP_001374370.1:p.Ile263= | |
| NM_001387442.1:c.540C>T (CERS1) | NP_001374371.1:p.Ile180= | |
| NM_001387443.1:c.540C>T (CERS1) | NP_001374372.1:p.Ile180= | |
| NM_001387444.1:c.540C>T (CERS1) | NP_001374373.1:p.Ile180= | |
| NM_001387445.1:c.540C>T (CERS1) | NP_001374374.1:p.Ile180= |