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:
468162
dbSNP Id:
rs747614356
ExAC:
16:2138530 A / G
gnomAD v2:
16-2138530-A-G
gnomAD v4:
16-2088529-A-G
MyVariant Identifiers:
chr16:g.2138530A>G (hg19)
chr16:g.2138530_2138531delinsGG (hg19)
chr16:g.2088529A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088529A>G , CM000678.2:g.2088529A>G | GRCh38 |
| NC_000016.9:g.2138530A>G , CM000678.1:g.2138530A>G | GRCh37 |
| NC_000016.8:g.2078531A>G | NCBI36 |
| NG_005895.1:g.44224A>G , LRG_487:g.44224A>G | |
| NG_008617.1:g.54692T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3692A>G | ENSP00000455997.2:n.*3692A>G | |
| ENST00000642206.2:c.5190A>G | ENSP00000495146.2:p.Pro1730= | |
| ENST00000642365.2:c.5340A>G | ENSP00000495459.2:p.Pro1780= | |
| ENST00000644417.2:c.*5856A>G | ENSP00000493912.2:n.*5856A>G | |
| ENST00000646464.2:c.*8092A>G | ENSP00000496610.2:n.*8092A>G | |
| ENST00000219476.9:c.5343A>G MANE Select | ENSP00000219476.3:p.Pro1781= | |
| ENST00000350773.9:c.5274A>G | ENSP00000344383.4:p.Pro1758= | |
| ENST00000401874.7:c.5142A>G | ENSP00000384468.2:p.Pro1714= | |
| ENST00000568454.6:c.5175A>G | ENSP00000454487.1:p.Pro1725= | |
| ENST00000569110.2:c.1566A>G | ||
| ENST00000569930.2:n.3225A>G | ||
| ENST00000642365.1:c.3997A>G | ||
| ENST00000642561.1:c.5202A>G | ENSP00000495099.1:p.Pro1734= | |
| ENST00000642791.1:n.940A>G | ||
| ENST00000642797.1:c.5145A>G | ENSP00000493846.1:p.Pro1715= | |
| ENST00000642936.1:c.5211A>G | ENSP00000494514.1:p.Pro1737= | |
| ENST00000643088.1:c.5136A>G | ENSP00000494747.1:p.Pro1712= | |
| ENST00000643426.1:n.2991A>G | ||
| ENST00000643946.1:c.5268A>G | ENSP00000495927.1:p.Pro1756= | |
| ENST00000644043.1:c.5214A>G | ENSP00000496262.1:p.Pro1738= | |
| ENST00000644329.1:c.5229A>G | ENSP00000496611.1:p.Pro1743= | |
| ENST00000644335.1:c.5139A>G | ENSP00000496317.1:p.Pro1713= | |
| ENST00000644399.1:c.5264A>G | ||
| ENST00000645024.1:n.3427A>G | ||
| ENST00000646388.1:c.5337A>G | ENSP00000495921.1:p.Pro1779= | |
| ENST00000646634.1:n.4158A>G | ||
| ENST00000646674.1:n.2595A>G | ||
| ENST00000647042.1:n.2566A>G | ||
| ENST00000647180.1:n.2456A>G | ||
| ENST00000219476.7:c.5343A>G | ENSP00000219476.3:p.Pro1781= | |
| ENST00000350773.8:c.5274A>G | ENSP00000344383.4:p.Pro1758= | |
| ENST00000382538.10:c.4998A>G | ENSP00000371978.6:p.Pro1666= | |
| ENST00000401874.6:c.5142A>G | ENSP00000384468.2:p.Pro1714= | |
| ENST00000439117.6:c.*4510A>G | ENSP00000406980.2:n.*4510A>G | |
| ENST00000439673.6:c.5034A>G | ENSP00000399232.2:p.Pro1678= | |
| ENST00000497886.5:n.3066A>G | ||
| ENST00000568454.5:c.5175A>G | ENSP00000454487.1:p.Pro1725= | |
| ENST00000569110.1:c.1525A>G | ||
| ENST00000569930.1:n.2458A>G | ||
| NM_000548.3:c.5343A>G , LRG_487t1:c.5343A>G | NP_000539.2:p.Pro1781= | |
| NM_001077183.1:c.5142A>G | NP_001070651.1:p.Pro1714= | |
| NM_001114382.1:c.5274A>G | NP_001107854.1:p.Pro1758= | |
| XM_005255529.3:c.5214A>G | XP_005255586.2:p.Pro1738= | |
| XM_005255531.3:c.5145A>G | XP_005255588.2:p.Pro1715= | |
| XM_011522636.1:c.5397A>G | XP_011520938.1:p.Pro1799= | |
| XM_011522637.1:c.5394A>G | XP_011520939.1:p.Pro1798= | |
| XM_011522638.1:c.5286A>G | XP_011520940.1:p.Pro1762= | |
| XM_011522639.1:c.5268A>G | XP_011520941.1:p.Pro1756= | |
| XM_011522640.1:c.5265A>G | XP_011520942.1:p.Pro1755= | |
| XM_011522641.1:c.5034A>G | XP_011520943.1:p.Pro1678= | |
| NM_000548.4:c.5343A>G | NP_000539.2:p.Pro1781= | |
| NM_001077183.2:c.5142A>G | NP_001070651.1:p.Pro1714= | |
| NM_001114382.2:c.5274A>G | NP_001107854.1:p.Pro1758= | |
| NM_001318827.1:c.5034A>G | NP_001305756.1:p.Pro1678= | |
| NM_001318829.1:c.4998A>G | NP_001305758.1:p.Pro1666= | |
| NM_001318831.1:c.4611A>G | NP_001305760.1:p.Pro1537= | |
| NM_001318832.1:c.5175A>G | NP_001305761.1:p.Pro1725= | |
| NM_001363528.1:c.5145A>G | NP_001350457.1:p.Pro1715= | |
| NM_021055.2:c.5214A>G | NP_066399.2:p.Pro1738= | |
| XM_005255531.4:c.5145A>G | XP_005255588.2:p.Pro1715= | |
| XM_011522636.2:c.5397A>G | XP_011520938.1:p.Pro1799= | |
| XM_011522637.2:c.5394A>G | XP_011520939.1:p.Pro1798= | |
| XM_011522638.2:c.5559A>G | XP_011520940.2:p.Pro1853= | |
| XM_011522639.2:c.5268A>G | XP_011520941.1:p.Pro1756= | |
| XM_011522640.2:c.5265A>G | XP_011520942.1:p.Pro1755= | |
| XM_017023615.1:c.5340A>G | XP_016879104.1:p.Pro1780= | |
| XM_017023616.1:c.5211A>G | XP_016879105.1:p.Pro1737= | |
| XM_017023617.1:c.5307A>G | XP_016879106.1:p.Pro1769= | |
| XM_017023618.1:c.4053A>G | XP_016879107.1:p.Pro1351= | |
| XM_024450413.1:c.5229A>G | XP_024306181.1:p.Pro1743= | |
| NM_000548.5:c.5343A>G MANE Select | NP_000539.2:p.Pro1781= | |
| NM_001370404.1:c.5211A>G | NP_001357333.1:p.Pro1737= | |
| NM_001370405.1:c.5202A>G | NP_001357334.1:p.Pro1734= | |
| NM_001077183.3:c.5142A>G | NP_001070651.1:p.Pro1714= | |
| NM_001114382.3:c.5274A>G | NP_001107854.1:p.Pro1758= | |
| NM_001318827.2:c.5034A>G | NP_001305756.1:p.Pro1678= | |
| NM_001318829.2:c.4998A>G | NP_001305758.1:p.Pro1666= | |
| NM_001318831.2:c.4611A>G | NP_001305760.1:p.Pro1537= | |
| NM_001318832.2:c.5175A>G | NP_001305761.1:p.Pro1725= | |
| NM_001363528.2:c.5145A>G | NP_001350457.1:p.Pro1715= | |
| NM_021055.3:c.5214A>G | NP_066399.2:p.Pro1738= |