Linked Data
ClinVar Variation Id:
102450
ClinVar RCV Id:
RCV000088687
dbSNP Id:
rs587777218
ExAC:
6:5216855 C / A
gnomAD v2:
6-5216855-C-A
gnomAD v4:
6-5216622-C-A
PubMed:
PMID:23814038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5216622C>A , CM000668.2:g.5216622C>A | GRCh38 |
| NC_000006.11:g.5216855C>A , CM000668.1:g.5216855C>A | GRCh37 |
| NC_000006.10:g.5161854C>A | NCBI36 |
| NG_051651.1:g.49329G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330636.9:c.203G>T (LYRM4) MANE Select | ENSP00000418787.1:p.Arg68Leu | |
| ENST00000330636.8:c.203G>T (LYRM4) | ENSP00000418787.1:p.Arg68Leu | |
| ENST00000463032.5:c.117G>T (LYRM4) | ||
| ENST00000464010.5:c.203G>T (LYRM4) | ENSP00000420026.1:p.Arg68Leu | |
| ENST00000468929.5:c.86+44026G>T (LYRM4) | ENSP00000418321.1:n.86+44026G>T | |
| ENST00000480566.5:c.203G>T (LYRM4) | ENSP00000419928.1:p.Arg68Leu | |
| ENST00000500576.4:c.203G>T (LYRM4) | ENSP00000443900.3:p.Arg68Leu | |
| NM_001164840.2:c.203G>T (LYRM4) | NP_001158312.1:p.Arg68Leu | |
| NM_001164841.2:c.203G>T (LYRM4) | NP_001158313.1:p.Arg68Leu | |
| NM_020408.5:c.203G>T (LYRM4) | NP_065141.3:p.Arg68Leu | |
| NR_104417.1:n.420G>T (LYRM4) | ||
| NR_104418.1:n.303+44026G>T (LYRM4) | ||
| NR_126015.1:n.374-21086C>A (LYRM4-AS1) | ||
| XM_005249237.3:c.203G>T (LYRM4) | XP_005249294.1:p.Arg68Leu | |
| XM_005249239.2:c.203G>T (LYRM4) | XP_005249296.1:p.Arg68Leu | |
| XM_006715151.1:c.203G>T (LYRM4) | XP_006715214.1:p.Arg68Leu | |
| XM_011514758.1:c.203G>T (LYRM4) | XP_011513060.1:p.Arg68Leu | |
| NM_001318782.1:c.203G>T (LYRM4) | NP_001305711.1:p.Arg68Leu | |
| NM_001318783.1:c.203G>T (LYRM4) | NP_001305712.1:p.Arg68Leu | |
| NR_134856.1:n.420G>T (LYRM4) | ||
| XM_017011083.2:c.203G>T (LYRM4) | XP_016866572.1:p.Arg68Leu | |
| XM_017011084.2:c.203G>T (LYRM4) | XP_016866573.1:p.Arg68Leu | |
| NM_001164840.3:c.203G>T (LYRM4) | NP_001158312.1:p.Arg68Leu | |
| NM_001164841.3:c.203G>T (LYRM4) | NP_001158313.1:p.Arg68Leu | |
| NM_020408.6:c.203G>T (LYRM4) MANE Select | NP_065141.3:p.Arg68Leu | |
| NR_104417.2:n.420G>T (LYRM4) |