This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66490546T>A , CM000677.2:g.66490546T>A | GRCh38 |
| NC_000015.9:g.66782884T>A , CM000677.1:g.66782884T>A | GRCh37 |
| NC_000015.8:g.64569938T>A | NCBI36 |
| NG_008305.1:g.108674T>A , LRG_725:g.108674T>A | |
| NG_051234.1:g.12270A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.*161T>A (MAP2K1) | ENSP00000508681.1:n.*161T>A | |
| ENST00000685172.1:c.1067T>A (MAP2K1) | ENSP00000509604.1:p.Leu356Ter | |
| ENST00000685763.1:c.966T>A (MAP2K1) | ENSP00000509016.1:p.Phe322Leu | |
| ENST00000686347.1:c.786T>A (MAP2K1) | ENSP00000509027.1:p.Phe262Leu | |
| ENST00000687191.1:n.3393T>A (MAP2K1) | ||
| ENST00000687481.1:n.528T>A (MAP2K1) | ||
| ENST00000688689.1:n.868T>A (MAP2K1) | ||
| ENST00000689951.1:c.1164T>A (MAP2K1) | ENSP00000509308.1:p.Phe388Leu | |
| ENST00000691077.1:c.*2272T>A (MAP2K1) | ENSP00000509843.1:n.*2272T>A | |
| ENST00000691576.1:c.984T>A (MAP2K1) | ENSP00000510066.1:p.Phe328Leu | |
| ENST00000691937.1:c.*94T>A (MAP2K1) | ENSP00000508768.1:n.*94T>A | |
| ENST00000692487.1:c.*2713T>A (MAP2K1) | ENSP00000509534.1:n.*2713T>A | |
| ENST00000692683.1:c.1047T>A (MAP2K1) | ENSP00000508437.1:p.Phe349Leu | |
| ENST00000693150.1:c.969T>A (MAP2K1) | ENSP00000510309.1:p.Phe323Leu | |
| ENST00000307102.10:c.1113T>A (MAP2K1) MANE Select | ENSP00000302486.5:p.Phe371Leu | |
| ENST00000307102.9:c.1113T>A (MAP2K1) | ENSP00000302486.4:p.Phe371Leu | |
| ENST00000395589.6:c.*193A>T (SNAPC5) | ENSP00000378954.2:n.*193A>T | |
| ENST00000563480.6:c.*193A>T (SNAPC5) | ENSP00000457892.1:n.*193A>T | |
| ENST00000566326.1:c.585T>A (MAP2K1) | ENSP00000456438.1:p.Phe195Leu | |
| NM_002755.3:c.1113T>A , LRG_725t1:c.1113T>A (MAP2K1) | NP_002746.1:p.Phe371Leu | |
| NM_006049.2:c.*193A>T (SNAPC5) | NP_006040.1:n.*193A>T | |
| XM_011521783.1:c.1047T>A (MAP2K1) | XP_011520085.1:p.Phe349Leu | |
| NM_006049.3:c.*193A>T (SNAPC5) | NP_006040.1:n.*193A>T | |
| NR_138061.1:n.712A>T (SNAPC5) | ||
| XM_011521783.3:c.1047T>A (MAP2K1) | XP_011520085.1:p.Phe349Leu | |
| XM_017022411.2:c.1035T>A (MAP2K1) | XP_016877900.1:p.Phe345Leu | |
| XM_017022412.1:c.969T>A (MAP2K1) | XP_016877901.1:p.Phe323Leu | |
| XM_017022413.1:c.585T>A (MAP2K1) | XP_016877902.1:p.Phe195Leu | |
| NM_002755.4:c.1113T>A (MAP2K1) MANE Select | NP_002746.1:p.Phe371Leu | |
| NM_006049.4:c.*193A>T (SNAPC5) | NP_006040.1:n.*193A>T | |
| NR_138061.2:n.659A>T (SNAPC5) |