This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31258502G>A , CM000679.2:g.31258502G>A | GRCh38 |
| NC_000017.10:g.29585520G>A , CM000679.1:g.29585520G>A | GRCh37 |
| NC_000017.9:g.26609646G>A | NCBI36 |
| NG_009018.1:g.168526G>A , LRG_214:g.168526G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.120G>A | ENSP00000492721.2:p.Lys40= | |
| ENST00000696138.1:c.4314G>A | ENSP00000512431.1:p.Lys1438= | |
| ENST00000696140.1:n.438G>A | ||
| ENST00000696141.1:c.323G>A | ||
| ENST00000687863.1:n.977G>A | ||
| ENST00000691014.1:c.4362G>A | ENSP00000510595.1:p.Lys1454= | |
| ENST00000691649.1:n.304G>A | ||
| ENST00000358273.9:c.4332G>A MANE Select | ENSP00000351015.4:p.Lys1444= | |
| ENST00000356175.7:c.4269G>A | ENSP00000348498.3:p.Lys1423= | |
| ENST00000358273.8:c.4332G>A | ENSP00000351015.4:p.Lys1444= | |
| ENST00000456735.6:c.3267G>A | ENSP00000389907.2:p.Lys1089= | |
| ENST00000466819.5:c.848G>A | ||
| ENST00000479614.1:c.785G>A | ||
| ENST00000493220.5:n.2805G>A | ||
| ENST00000579081.5:c.4371G>A | ENSP00000462408.1:p.Lys1457= | |
| NM_000267.3:c.4269G>A , LRG_214t1:c.4269G>A | NP_000258.1:p.Lys1423= | |
| NM_001042492.2:c.4332G>A , LRG_214t2:c.4332G>A | NP_001035957.1:p.Lys1444= | |
| XM_005257983.1:c.4332G>A | XP_005258040.1:p.Lys1444= | |
| XM_005257984.1:c.4269G>A | XP_005258041.1:p.Lys1423= | |
| XM_006721922.1:c.4362G>A | XP_006721985.1:p.Lys1454= | |
| XM_006721923.2:c.4323G>A | XP_006721986.1:p.Lys1441= | |
| XM_006721924.1:c.4362G>A | XP_006721987.1:p.Lys1454= | |
| XM_006721925.1:c.4299G>A | XP_006721988.1:p.Lys1433= | |
| XM_006721926.2:c.4362G>A | XP_006721989.1:p.Lys1454= | |
| XM_006721927.1:c.4362G>A | XP_006721990.1:p.Lys1454= | |
| XM_006721928.2:c.4362G>A | XP_006721991.1:p.Lys1454= | |
| XM_011524852.1:c.4359G>A | XP_011523154.1:p.Lys1453= | |
| XM_011524853.1:c.4323G>A | XP_011523155.1:p.Lys1441= | |
| XM_011524854.1:c.4323G>A | XP_011523156.1:p.Lys1441= | |
| XM_011524855.1:c.4323G>A | XP_011523157.1:p.Lys1441= | |
| XM_011524856.1:c.4323G>A | XP_011523158.1:p.Lys1441= | |
| XM_011524857.1:c.4362G>A | XP_011523159.1:p.Lys1454= | |
| NM_001042492.3:c.4332G>A MANE Select | NP_001035957.1:p.Lys1444= |