UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
1021319
ClinVar RCV Id:
RCV002341657
dbSNP Id:
rs1057522800
gnomAD v4:
16-2085006-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2085006C>G , CM000678.2:g.2085006C>G | GRCh38 |
| NC_000016.9:g.2135007C>G , CM000678.1:g.2135007C>G | GRCh37 |
| NC_000016.8:g.2075008C>G | NCBI36 |
| NG_005895.1:g.40701C>G , LRG_487:g.40701C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2898C>G | ENSP00000455997.2:n.*2898C>G | |
| ENST00000642206.2:c.4396C>G | ENSP00000495146.2:p.Pro1466Ala | |
| ENST00000642365.2:c.4546C>G | ENSP00000495459.2:p.Pro1516Ala | |
| ENST00000644417.2:c.*4929C>G | ENSP00000493912.2:n.*4929C>G | |
| ENST00000646464.2:c.*7298C>G | ENSP00000496610.2:n.*7298C>G | |
| ENST00000219476.9:c.4549C>G MANE Select | ENSP00000219476.3:p.Pro1517Ala | |
| ENST00000350773.9:c.4480C>G | ENSP00000344383.4:p.Pro1494Ala | |
| ENST00000401874.7:c.4348C>G | ENSP00000384468.2:p.Pro1450Ala | |
| ENST00000568454.6:c.4381C>G | ENSP00000454487.1:p.Pro1461Ala | |
| ENST00000569110.2:c.772C>G | ||
| ENST00000569930.2:n.2431C>G | ||
| ENST00000642365.1:c.3203C>G | ||
| ENST00000642561.1:c.4420C>G | ENSP00000495099.1:p.Pro1474Ala | |
| ENST00000642728.1:n.731C>G | ||
| ENST00000642797.1:c.4351C>G | ENSP00000493846.1:p.Pro1451Ala | |
| ENST00000642936.1:c.4417C>G | ENSP00000494514.1:p.Pro1473Ala | |
| ENST00000643088.1:c.4348C>G | ENSP00000494747.1:p.Pro1450Ala | |
| ENST00000643177.1:n.563C>G | ||
| ENST00000643426.1:n.2197C>G | ||
| ENST00000643946.1:c.4480C>G | ENSP00000495927.1:p.Pro1494Ala | |
| ENST00000644043.1:c.4420C>G | ENSP00000496262.1:p.Pro1474Ala | |
| ENST00000644329.1:c.4348C>G | ENSP00000496611.1:p.Pro1450Ala | |
| ENST00000644335.1:c.4351C>G | ENSP00000496317.1:p.Pro1451Ala | |
| ENST00000644399.1:c.4470C>G | ||
| ENST00000645024.1:n.2633C>G | ||
| ENST00000646388.1:c.4549C>G | ENSP00000495921.1:p.Pro1517Ala | |
| ENST00000646634.1:n.3364C>G | ||
| ENST00000646674.1:n.1801C>G | ||
| ENST00000647042.1:n.1772C>G | ||
| ENST00000647180.1:n.1662C>G | ||
| ENST00000219476.7:c.4549C>G | ENSP00000219476.3:p.Pro1517Ala | |
| ENST00000350773.8:c.4480C>G | ENSP00000344383.4:p.Pro1494Ala | |
| ENST00000382538.10:c.4204C>G | ENSP00000371978.6:p.Pro1402Ala | |
| ENST00000401874.6:c.4348C>G | ENSP00000384468.2:p.Pro1450Ala | |
| ENST00000439117.6:c.*3716C>G | ENSP00000406980.2:n.*3716C>G | |
| ENST00000439673.6:c.4240C>G | ENSP00000399232.2:p.Pro1414Ala | |
| ENST00000497886.5:n.2307C>G | ||
| ENST00000568454.5:c.4381C>G | ENSP00000454487.1:p.Pro1461Ala | |
| ENST00000569110.1:c.731C>G | ||
| ENST00000569930.1:n.1664C>G | ||
| NM_000548.3:c.4549C>G , LRG_487t1:c.4549C>G | NP_000539.2:p.Pro1517Ala | |
| NM_001077183.1:c.4348C>G | NP_001070651.1:p.Pro1450Ala | |
| NM_001114382.1:c.4480C>G | NP_001107854.1:p.Pro1494Ala | |
| XM_005255529.3:c.4420C>G | XP_005255586.2:p.Pro1474Ala | |
| XM_005255531.3:c.4351C>G | XP_005255588.2:p.Pro1451Ala | |
| XM_011522636.1:c.4603C>G | XP_011520938.1:p.Pro1535Ala | |
| XM_011522637.1:c.4600C>G | XP_011520939.1:p.Pro1534Ala | |
| XM_011522638.1:c.4492C>G | XP_011520940.1:p.Pro1498Ala | |
| XM_011522639.1:c.4474C>G | XP_011520941.1:p.Pro1492Ala | |
| XM_011522640.1:c.4471C>G | XP_011520942.1:p.Pro1491Ala | |
| XM_011522641.1:c.4240C>G | XP_011520943.1:p.Pro1414Ala | |
| NM_000548.4:c.4549C>G | NP_000539.2:p.Pro1517Ala | |
| NM_001077183.2:c.4348C>G | NP_001070651.1:p.Pro1450Ala | |
| NM_001114382.2:c.4480C>G | NP_001107854.1:p.Pro1494Ala | |
| NM_001318827.1:c.4240C>G | NP_001305756.1:p.Pro1414Ala | |
| NM_001318829.1:c.4204C>G | NP_001305758.1:p.Pro1402Ala | |
| NM_001318831.1:c.3817C>G | NP_001305760.1:p.Pro1273Ala | |
| NM_001318832.1:c.4381C>G | NP_001305761.1:p.Pro1461Ala | |
| NM_001363528.1:c.4351C>G | NP_001350457.1:p.Pro1451Ala | |
| NM_021055.2:c.4420C>G | NP_066399.2:p.Pro1474Ala | |
| XM_005255531.4:c.4351C>G | XP_005255588.2:p.Pro1451Ala | |
| XM_011522636.2:c.4603C>G | XP_011520938.1:p.Pro1535Ala | |
| XM_011522637.2:c.4600C>G | XP_011520939.1:p.Pro1534Ala | |
| XM_011522638.2:c.4765C>G | XP_011520940.2:p.Pro1589Ala | |
| XM_011522639.2:c.4474C>G | XP_011520941.1:p.Pro1492Ala | |
| XM_011522640.2:c.4471C>G | XP_011520942.1:p.Pro1491Ala | |
| XM_017023615.1:c.4546C>G | XP_016879104.1:p.Pro1516Ala | |
| XM_017023616.1:c.4417C>G | XP_016879105.1:p.Pro1473Ala | |
| XM_017023617.1:c.4513C>G | XP_016879106.1:p.Pro1505Ala | |
| XM_017023618.1:c.3259C>G | XP_016879107.1:p.Pro1087Ala | |
| XM_024450413.1:c.4348C>G | XP_024306181.1:p.Pro1450Ala | |
| NM_000548.5:c.4549C>G MANE Select | NP_000539.2:p.Pro1517Ala | |
| NM_001370404.1:c.4417C>G | NP_001357333.1:p.Pro1473Ala | |
| NM_001370405.1:c.4420C>G | NP_001357334.1:p.Pro1474Ala | |
| NM_001077183.3:c.4348C>G | NP_001070651.1:p.Pro1450Ala | |
| NM_001114382.3:c.4480C>G | NP_001107854.1:p.Pro1494Ala | |
| NM_001318827.2:c.4240C>G | NP_001305756.1:p.Pro1414Ala | |
| NM_001318829.2:c.4204C>G | NP_001305758.1:p.Pro1402Ala | |
| NM_001318831.2:c.3817C>G | NP_001305760.1:p.Pro1273Ala | |
| NM_001318832.2:c.4381C>G | NP_001305761.1:p.Pro1461Ala | |
| NM_001363528.2:c.4351C>G | NP_001350457.1:p.Pro1451Ala | |
| NM_021055.3:c.4420C>G | NP_066399.2:p.Pro1474Ala |