Linked Data
ClinVar Variation Id:
342847
ClinVar RCV Id:
RCV000360635
dbSNP Id:
rs886057848
gnomAD v3:
3-123613392-G-T
gnomAD v4:
3-123613392-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123613392G>T , CM000665.2:g.123613392G>T | GRCh38 |
| NC_000003.11:g.123332239G>T , CM000665.1:g.123332239G>T | GRCh37 |
| NC_000003.10:g.124814929G>T | NCBI36 |
| NG_029111.1:g.275911C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578202.2:c.*963C>A (MYLK) | ENSP00000463691.2:n.*963C>A | |
| ENST00000685021.1:c.*713C>A (MYLK) | ENSP00000508447.1:n.*713C>A | |
| ENST00000685744.1:c.*713C>A (MYLK) | ENSP00000510047.1:n.*713C>A | |
| ENST00000685953.1:c.*713C>A (MYLK) | ENSP00000510593.1:n.*713C>A | |
| ENST00000686039.1:c.3842C>A (MYLK) | ||
| ENST00000687434.1:c.*2674C>A (MYLK) | ENSP00000509751.1:n.*2674C>A | |
| ENST00000688024.1:c.*713C>A (MYLK) | ENSP00000509803.1:n.*713C>A | |
| ENST00000688223.1:c.*713C>A (MYLK) | ENSP00000508935.1:n.*713C>A | |
| ENST00000689868.1:n.6718C>A (MYLK) | ||
| ENST00000691933.1:c.4082C>A (MYLK) | ||
| ENST00000692507.1:n.2262C>A (MYLK) | ||
| ENST00000693689.1:c.*713C>A (MYLK) | ENSP00000510503.1:n.*713C>A | |
| ENST00000360304.8:c.*713C>A (MYLK) MANE Select | ENSP00000353452.3:n.*713C>A | |
| ENST00000354792.9:c.*713C>A (MYLK) | ENSP00000346846.6:n.*713C>A | |
| ENST00000359169.5:c.*713C>A (MYLK) | ENSP00000352088.1:n.*713C>A | |
| ENST00000360304.7:c.*713C>A (MYLK) | ENSP00000353452.3:n.*713C>A | |
| ENST00000360772.7:c.*713C>A (MYLK) | ENSP00000354004.3:n.*713C>A | |
| ENST00000418370.6:c.*713C>A (MYLK) | ENSP00000428967.1:n.*713C>A | |
| ENST00000578202.1:c.*713C>A (MYLK) | ENSP00000463691.1:n.*713C>A | |
| NM_053025.3:c.*713C>A (MYLK) | NP_444253.3:n.*713C>A | |
| NM_053026.3:c.*713C>A (MYLK) | NP_444254.3:n.*713C>A | |
| NM_053027.3:c.*713C>A (MYLK) | NP_444255.3:n.*713C>A | |
| NM_053028.3:c.*713C>A (MYLK) | NP_444256.3:n.*713C>A | |
| NM_053031.2:c.*713C>A (MYLK) | NP_444259.1:n.*713C>A | |
| NM_053032.2:c.*713C>A (MYLK) | NP_444260.1:n.*713C>A | |
| NR_038266.2:n.290-16102G>T (MYLK-AS1) | ||
| NR_121654.1:n.197-16102G>T (MYLK-AS1) | ||
| NM_001321309.1:c.*713C>A (MYLK) | NP_001308238.1:n.*713C>A | |
| NM_053031.3:c.*713C>A (MYLK) | NP_444259.1:n.*713C>A | |
| NM_053032.3:c.*713C>A (MYLK) | NP_444260.1:n.*713C>A | |
| XM_017006469.2:c.*713C>A (MYLK) | XP_016861958.1:n.*713C>A | |
| XM_017006470.2:c.*713C>A (MYLK) | XP_016861959.1:n.*713C>A | |
| XM_017006471.2:c.*713C>A (MYLK) | XP_016861960.1:n.*713C>A | |
| XM_017006472.2:c.*713C>A (MYLK) | XP_016861961.1:n.*713C>A | |
| XM_017006473.1:c.*713C>A (MYLK) | XP_016861962.1:n.*713C>A | |
| NM_001321309.2:c.*713C>A (MYLK) | NP_001308238.1:n.*713C>A | |
| NM_053025.4:c.*713C>A (MYLK) MANE Select | NP_444253.3:n.*713C>A | |
| NM_053026.4:c.*713C>A (MYLK) | NP_444254.3:n.*713C>A | |
| NM_053027.4:c.*713C>A (MYLK) | NP_444255.3:n.*713C>A | |
| NM_053028.4:c.*713C>A (MYLK) | NP_444256.3:n.*713C>A | |
| NM_053031.4:c.*713C>A (MYLK) | NP_444259.1:n.*713C>A | |
| NM_053032.4:c.*713C>A (MYLK) | NP_444260.1:n.*713C>A |