Linked Data
ClinVar Variation Id:
735990
ClinVar RCV Id:
RCV000911593
dbSNP Id:
rs748102598
ExAC:
19:4684782 A / G
gnomAD v2:
19-4684782-A-G
gnomAD v3:
19-4684770-A-G
gnomAD v4:
19-4684770-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4684770A>G , CM000681.2:g.4684770A>G | GRCh38 |
| NC_000019.9:g.4684782A>G , CM000681.1:g.4684782A>G | GRCh37 |
| NC_000019.8:g.4635782A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593973.2:c.1984T>C (DPP9) | ENSP00000515514.1:p.Leu662= | |
| ENST00000600621.6:c.2071T>C (DPP9) | ENSP00000472549.2:p.Leu691= | |
| ENST00000601130.6:c.2071T>C (DPP9) | ENSP00000471629.2:p.Leu691= | |
| ENST00000646573.2:c.1984T>C (DPP9) | ENSP00000496196.2:p.Leu662= | |
| ENST00000703254.1:c.2065T>C (DPP9) | ENSP00000515244.1:p.Leu689= | |
| ENST00000262960.14:c.2071T>C (DPP9) MANE Select | ENSP00000262960.8:p.Leu691= | |
| ENST00000646573.1:c.98T>C (DPP9) | ||
| ENST00000262960.13:c.2071T>C (DPP9) | ENSP00000262960.8:p.Leu691= | |
| ENST00000594671.5:c.1984T>C (DPP9) | ENSP00000472224.1:p.Leu662= | |
| ENST00000597145.5:n.2714T>C (DPP9) | ||
| ENST00000597900.5:c.215T>C (DPP9) | ||
| ENST00000598800.5:c.1984T>C (DPP9) | ENSP00000469603.1:p.Leu662= | |
| ENST00000601173.1:n.41T>C (DPP9) | ||
| ENST00000601720.5:c.233T>C (DPP9) | ||
| NM_001242901.1:c.*926A>G (DPP9-AS1) | NP_001229830.1:n.*926A>G | |
| NM_139159.4:c.2071T>C (DPP9) | NP_631898.3:p.Leu691= | |
| XM_005259673.2:c.2071T>C (DPP9) | XP_005259730.1:p.Leu691= | |
| XM_011528405.1:c.2233T>C (DPP9) | XP_011526707.1:p.Leu745= | |
| XM_011528406.1:c.2233T>C (DPP9) | XP_011526708.1:p.Leu745= | |
| XM_011528407.1:c.2116T>C (DPP9) | XP_011526709.1:p.Leu706= | |
| XM_011528408.1:c.2071T>C (DPP9) | XP_011526710.1:p.Leu691= | |
| XM_011528409.1:c.2233T>C (DPP9) | XP_011526711.1:p.Leu745= | |
| XM_011528410.1:c.1984T>C (DPP9) | XP_011526712.1:p.Leu662= | |
| XM_011528411.1:c.1984T>C (DPP9) | XP_011526713.1:p.Leu662= | |
| XR_936213.1:n.3306T>C (DPP9) | ||
| NR_158699.1:n.2328T>C (DPP9) | ||
| XM_017027453.1:c.2233T>C (DPP9) | XP_016882942.1:p.Leu745= | |
| XM_017027454.1:c.2233T>C (DPP9) | XP_016882943.1:p.Leu745= | |
| XM_024451770.1:c.1984T>C (DPP9) | XP_024307538.1:p.Leu662= | |
| NM_139159.5:c.2071T>C (DPP9) MANE Select | NP_631898.3:p.Leu691= | |
| NR_158699.2:n.2328T>C (DPP9) | ||
| NR_164163.1:n.1893A>G (DPP9-AS1) | ||
| NM_001384611.1:c.2071T>C (DPP9) | NP_001371540.1:p.Leu691= | |
| NM_001384612.1:c.2071T>C (DPP9) | NP_001371541.1:p.Leu691= | |
| NM_001384613.1:c.2071T>C (DPP9) | NP_001371542.1:p.Leu691= | |
| NM_001384614.1:c.2071T>C (DPP9) | NP_001371543.1:p.Leu691= | |
| NM_001384615.1:c.2071T>C (DPP9) | NP_001371544.1:p.Leu691= | |
| NM_001384617.1:c.2065T>C (DPP9) | NP_001371546.1:p.Leu689= | |
| NM_001384618.1:c.2044T>C (DPP9) | NP_001371547.1:p.Leu682= | |
| NM_001384619.1:c.2038T>C (DPP9) | NP_001371548.1:p.Leu680= | |
| NM_001384620.1:c.2032T>C (DPP9) | NP_001371549.1:p.Leu678= | |
| NM_001384621.1:c.2032T>C (DPP9) | NP_001371550.1:p.Leu678= | |
| NM_001384622.1:c.2071T>C (DPP9) | NP_001371551.1:p.Leu691= | |
| NM_001384623.1:c.1984T>C (DPP9) | NP_001371552.1:p.Leu662= | |
| NM_001384624.1:c.1984T>C (DPP9) | NP_001371553.1:p.Leu662= | |
| NM_001384625.1:c.1984T>C (DPP9) | NP_001371554.1:p.Leu662= | |
| NM_001384626.1:c.1984T>C (DPP9) | NP_001371555.1:p.Leu662= | |
| NM_001384627.1:c.1984T>C (DPP9) | NP_001371556.1:p.Leu662= | |
| NM_001384628.1:c.2071T>C (DPP9) | NP_001371557.1:p.Leu691= | |
| NM_001384629.1:c.2071T>C (DPP9) | NP_001371558.1:p.Leu691= | |
| NM_001384630.1:c.2031+856T>C (DPP9) | NP_001371559.1:n.2031+856T>C | |
| NM_001384631.1:c.1831T>C (DPP9) | NP_001371560.1:p.Leu611= | |
| NR_169283.1:n.2289T>C (DPP9) | ||
| NR_169284.1:n.2072T>C (DPP9) | ||
| NR_169285.1:n.2159T>C (DPP9) | ||
| NR_169286.1:n.2438T>C (DPP9) | ||
| NR_169287.1:n.2260T>C (DPP9) | ||
| NR_169289.1:n.2227T>C (DPP9) | ||
| NR_169290.1:n.2324T>C (DPP9) | ||
| NR_169291.1:n.2294T>C (DPP9) |