Linked Data
ClinVar Variation Id:
161651
ClinVar RCV Id:
RCV000149187
dbSNP Id:
rs193920888
COSMIC:
COSM1179946
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137881975G>T , CM000667.2:g.137881975G>T | GRCh38 |
| NC_000005.9:g.137217664G>T , CM000667.1:g.137217664G>T | GRCh37 |
| NC_000005.8:g.137245563G>T | NCBI36 |
| NG_008894.1:g.19120G>T , LRG_201:g.19120G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239926.9:c.686G>T (MYOT) MANE Select | ENSP00000239926.4:p.Ser229Ile | |
| ENST00000239926.8:c.686G>T (MYOT) | ENSP00000239926.4:p.Ser229Ile | |
| ENST00000421631.6:c.134G>T (MYOT) | ENSP00000391185.2:p.Ser45Ile | |
| ENST00000503748.1:n.251G>T (MYOT) | ||
| ENST00000509812.5:n.506+1110G>T (MYOT) | ||
| ENST00000511254.1:n.251+1110G>T (MYOT) | ||
| ENST00000515645.1:c.341G>T (MYOT) | ENSP00000426281.1:p.Ser114Ile | |
| NM_001135940.1:c.134G>T (MYOT) | NP_001129412.1:p.Ser45Ile | |
| NM_001300911.1:c.341G>T (MYOT) | NP_001287840.1:p.Ser114Ile | |
| NM_006790.2:c.686G>T , LRG_201t1:c.686G>T (MYOT) | NP_006781.1:p.Ser229Ile | |
| XR_948815.1:n.219+6185C>A (PKD2L2-DT) | ||
| XR_948816.1:n.57+7172C>A (PKD2L2-DT) | ||
| XM_017010060.1:c.101G>T (MYOT) | XP_016865549.1:p.Ser34Ile | |
| XM_017010061.1:c.101G>T (MYOT) | XP_016865550.1:p.Ser34Ile | |
| XM_017010062.1:c.101G>T (MYOT) | XP_016865551.1:p.Ser34Ile | |
| XR_948815.2:n.346+6185C>A (PKD2L2-DT) | ||
| NM_001135940.2:c.134G>T (MYOT) | NP_001129412.1:p.Ser45Ile | |
| NM_001300911.2:c.341G>T (MYOT) | NP_001287840.1:p.Ser114Ile | |
| NM_006790.3:c.686G>T (MYOT) MANE Select | NP_006781.1:p.Ser229Ile |