Linked Data
ClinVar Variation Id:
1698736
dbSNP Id:
rs774268708
ExAC:
1:171605735 TG / T
gnomAD v2:
1-171605735-TG-T
gnomAD v3:
1-171636595-TG-T
gnomAD v4:
1-171636595-TG-T
MyVariant Identifiers:
chr1:g.171605736del (hg19)
chr1:g.171636597del (hg38)
chr1:g.171636596del (hg38)
ERepo:
CA1244142/MONDO:0007665/019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636598del , CM000663.2:g.171636598del | GRCh38 |
| NC_000001.10:g.171605738del , CM000663.1:g.171605738del | GRCh37 |
| NC_000001.9:g.169872361del | NCBI36 |
| NG_008859.1:g.21038del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.844del (MYOC) MANE Select | ENSP00000037502.5:p.Gln282ArgfsTer? | |
| ENST00000637303.1:c.235-2032del (MYOCOS) | ENSP00000490048.1:n.235-2032del | |
| ENST00000638471.1:c.*182del (MYOC) | ENSP00000491206.1:n.*182del | |
| ENST00000037502.10:c.844del (MYOC) | ENSP00000037502.5:p.Gln282ArgfsTer? | |
| ENST00000614688.1:c.844del (MYOC) | ENSP00000478680.1:p.Gln282ArgfsTer? | |
| NM_000261.1:c.844del (MYOC) | NP_000252.1:p.Gln282ArgfsTer? | |
| NM_000261.2:c.844del (MYOC) MANE Select | NP_000252.1:p.Gln282ArgfsTer? |