Linked Data
dbSNP Id:
rs762876843
gnomAD v2:
1-171605592-A-ACACCACAGCACCCGTGCTTTC
gnomAD v4:
1-171636452-A-ACACCACAGCACCCGTGCTTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171636455_171636475dup , CM000663.2:g.171636455_171636475dup | GRCh38 |
| NC_000001.10:g.171605595_171605615dup , CM000663.1:g.171605595_171605615dup | GRCh37 |
| NC_000001.9:g.169872218_169872238dup | NCBI36 |
| NG_008859.1:g.21161_21181dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.967_987dup (MYOC) MANE Select | ENSP00000037502.5:p.Val329_Tyr330insGluSerThrGlyAlaValVal | |
| ENST00000637303.1:c.235-2175_235-2155dup (MYOCOS) | ENSP00000490048.1:n.235-2175_235-2155dup | |
| ENST00000638471.1:c.*305_*325dup (MYOC) | ENSP00000491206.1:n.*305_*325dup | |
| ENST00000037502.10:c.967_987dup (MYOC) | ENSP00000037502.5:p.Val329_Tyr330insGluSerThrGlyAlaValVal | |
| ENST00000614688.1:c.967_987dup (MYOC) | ENSP00000478680.1:p.Val329_Tyr330insGluSerThrGlyAlaValVal | |
| NM_000261.1:c.967_987dup (MYOC) | NP_000252.1:p.Val329_Tyr330insGluSerThrGlyAlaValVal | |
| NM_000261.2:c.967_987dup (MYOC) MANE Select | NP_000252.1:p.Val329_Tyr330insGluSerThrGlyAlaValVal |