Linked Data
dbSNP Id:
rs10953541
gnomAD v2:
7-107244545-C-T
gnomAD v3:
7-107604100-C-T
gnomAD v4:
7-107604100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107604100C>T , CM000669.2:g.107604100C>T | GRCh38 |
| NC_000007.13:g.107244545C>T , CM000669.1:g.107244545C>T | GRCh37 |
| NC_000007.12:g.107031781C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000005259.9:c.589+3595C>T (BCAP29) MANE Select | ENSP00000005259.4:n.589+3595C>T | |
| ENST00000673665.1:c.1309+3595C>T (DUS4L-BCAP29) | ENSP00000501082.1:n.1309+3595C>T | |
| ENST00000673689.1:c.946+3595C>T (DUS4L-BCAP29) | ENSP00000501243.1:n.946+3595C>T | |
| ENST00000673709.1:c.*411+3595C>T (DUS4L-BCAP29) | ENSP00000501046.1:n.*411+3595C>T | |
| ENST00000673720.1:c.1309+3595C>T (DUS4L-BCAP29) | ENSP00000501003.1:n.1309+3595C>T | |
| ENST00000673757.1:c.1309+3595C>T (DUS4L-BCAP29) | ENSP00000501026.1:n.1309+3595C>T | |
| ENST00000673780.1:c.1309+3595C>T (DUS4L-BCAP29) | ENSP00000501094.1:n.1309+3595C>T | |
| ENST00000673784.1:c.*1011+3595C>T (DUS4L-BCAP29) | ENSP00000501306.1:n.*1011+3595C>T | |
| ENST00000673970.1:c.1309+3595C>T (DUS4L-BCAP29) | ENSP00000501195.1:n.1309+3595C>T | |
| ENST00000673992.1:c.*1011+3595C>T (DUS4L-BCAP29) | ENSP00000501193.1:n.*1011+3595C>T | |
| ENST00000674049.1:c.*918+3595C>T (DUS4L-BCAP29) | ENSP00000501280.1:n.*918+3595C>T | |
| ENST00000674062.1:c.*918+3595C>T (DUS4L-BCAP29) | ENSP00000501049.1:n.*918+3595C>T | |
| ENST00000005259.8:c.589+3595C>T (BCAP29) | ENSP00000005259.4:n.589+3595C>T | |
| ENST00000379117.6:c.589+3595C>T (BCAP29) | ENSP00000368412.2:n.589+3595C>T | |
| ENST00000379119.6:c.589+3595C>T (BCAP29) | ENSP00000368414.2:n.589+3595C>T | |
| ENST00000436699.2:c.329+3595C>T (BCAP29) | ||
| ENST00000442065.5:c.*144+3595C>T (BCAP29) | ENSP00000390733.1:n.*144+3595C>T | |
| ENST00000445771.6:c.589+3595C>T (BCAP29) | ENSP00000400718.2:n.589+3595C>T | |
| ENST00000457837.5:c.589+3595C>T (BCAP29) | ENSP00000409350.1:n.589+3595C>T | |
| ENST00000465919.5:c.307+3595C>T (BCAP29) | ENSP00000418993.1:n.307+3595C>T | |
| ENST00000482371.5:c.*237+3595C>T (BCAP29) | ENSP00000420365.1:n.*237+3595C>T | |
| ENST00000491150.5:c.460+3595C>T (BCAP29) | ENSP00000419681.1:n.460+3595C>T | |
| ENST00000494086.5:n.537+3595C>T (BCAP29) | ||
| NM_001008405.2:c.589+3595C>T (BCAP29) | NP_001008405.1:n.589+3595C>T | |
| NM_018844.3:c.589+3595C>T (BCAP29) | NP_061332.2:n.589+3595C>T | |
| NR_027830.1:n.822+3595C>T (BCAP29) | ||
| XM_006716051.2:c.589+3595C>T (BCAP29) | XP_006716114.1:n.589+3595C>T | |
| XM_011516406.1:c.589+3595C>T (BCAP29) | XP_011514708.1:n.589+3595C>T | |
| XM_011516407.1:c.589+3595C>T (BCAP29) | XP_011514709.1:n.589+3595C>T | |
| XM_011516408.1:c.589+3595C>T (BCAP29) | XP_011514710.1:n.589+3595C>T | |
| XM_011516409.1:c.589+3595C>T (BCAP29) | XP_011514711.1:n.589+3595C>T | |
| NM_001008405.3:c.589+3595C>T (BCAP29) | NP_001008405.1:n.589+3595C>T | |
| NM_001363482.1:c.589+3595C>T (BCAP29) | NP_001350411.1:n.589+3595C>T | |
| NM_001363483.1:c.589+3595C>T (BCAP29) | NP_001350412.1:n.589+3595C>T | |
| XM_011516406.2:c.589+3595C>T (BCAP29) | XP_011514708.1:n.589+3595C>T | |
| XM_011516407.2:c.589+3595C>T (BCAP29) | XP_011514709.1:n.589+3595C>T | |
| XM_011516409.3:c.589+3595C>T (BCAP29) | XP_011514711.1:n.589+3595C>T | |
| XM_017012437.2:c.589+3595C>T (BCAP29) | XP_016867926.1:n.589+3595C>T | |
| XM_017012438.2:c.589+3595C>T (BCAP29) | XP_016867927.1:n.589+3595C>T | |
| NM_001008405.4:c.589+3595C>T (BCAP29) | NP_001008405.1:n.589+3595C>T | |
| NM_001363483.2:c.589+3595C>T (BCAP29) | NP_001350412.1:n.589+3595C>T | |
| NM_001371353.1:c.589+3595C>T (BCAP29) | NP_001358282.1:n.589+3595C>T | |
| NM_001371354.1:c.589+3595C>T (BCAP29) | NP_001358283.1:n.589+3595C>T | |
| NM_001371355.1:c.589+3595C>T (BCAP29) | NP_001358284.1:n.589+3595C>T | |
| NM_001371356.1:c.589+3595C>T (BCAP29) | NP_001358285.1:n.589+3595C>T | |
| NM_001371357.1:c.589+3595C>T (BCAP29) | NP_001358286.1:n.589+3595C>T | |
| NM_001371364.2:c.1309+3595C>T (DUS4L-BCAP29) | NP_001358293.1:n.1309+3595C>T | |
| NM_001371365.2:c.1309+3595C>T (DUS4L-BCAP29) | NP_001358294.1:n.1309+3595C>T | |
| NM_001371366.2:c.1309+3595C>T (DUS4L-BCAP29) | NP_001358295.1:n.1309+3595C>T | |
| NM_001371367.2:c.1309+3595C>T (DUS4L-BCAP29) | NP_001358296.1:n.1309+3595C>T | |
| NM_018844.4:c.589+3595C>T (BCAP29) MANE Select | NP_061332.2:n.589+3595C>T | |
| NR_027830.2:n.553+3595C>T (BCAP29) | ||
| NR_163926.1:n.659+3595C>T (BCAP29) | ||
| NR_163927.1:n.508+3595C>T (BCAP29) | ||
| NR_163928.1:n.672+3595C>T (BCAP29) | ||
| NR_163929.1:n.683+3571C>T (BCAP29) | ||
| NR_163930.1:n.369+3595C>T (BCAP29) | ||
| NR_163931.1:n.523+3595C>T (BCAP29) | ||
| NR_163932.1:n.417+3595C>T (BCAP29) | ||
| NR_163933.1:n.551+3595C>T (BCAP29) | ||
| NR_163934.1:n.778+3595C>T (BCAP29) | ||
| NR_163935.1:n.1228+3595C>T (BCAP29) | ||
| NR_163936.1:n.550+8098C>T (BCAP29) | ||
| NR_163937.1:n.553+3595C>T (BCAP29) | ||
| NR_163938.1:n.508+3595C>T (BCAP29) | ||
| NR_163939.2:n.1720+3595C>T (DUS4L-BCAP29) | ||
| NR_163940.2:n.1578+3595C>T (DUS4L-BCAP29) | ||
| NR_163941.2:n.1540+3595C>T (DUS4L-BCAP29) |