Linked Data
dbSNP Id:
rs147565266
gnomAD v2:
2-188311515-T-A
gnomAD v3:
2-187446788-T-A
gnomAD v4:
2-187446788-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.187446788T>A , CM000664.2:g.187446788T>A | GRCh38 |
| NC_000002.11:g.188311515T>A , CM000664.1:g.188311515T>A | GRCh37 |
| NC_000002.10:g.188019760T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392370.8:c.-293+1251A>T (CALCRL) MANE Select | ENSP00000376177.3:n.-293+1251A>T | |
| ENST00000392370.7:c.-293+1251A>T (CALCRL) | ENSP00000376177.3:n.-293+1251A>T | |
| ENST00000409998.5:c.-361+1251A>T (CALCRL) | ENSP00000386972.1:n.-361+1251A>T | |
| ENST00000410068.5:c.-128+1251A>T (CALCRL) | ENSP00000387190.1:n.-128+1251A>T | |
| ENST00000410102.5:c.-265+1251A>T (CALCRL) | ENSP00000386599.1:n.-265+1251A>T | |
| ENST00000447403.5:c.-196+1251A>T (CALCRL) | ENSP00000415626.1:n.-196+1251A>T | |
| ENST00000461244.5:n.214+1251A>T (CALCRL) | ||
| ENST00000474212.5:n.214+1251A>T (CALCRL) | ||
| ENST00000479784.1:n.108+1251A>T (CALCRL) | ||
| ENST00000485973.1:n.215+1251A>T (CALCRL) | ||
| NM_001271751.1:c.-128+1251A>T (CALCRL) | NP_001258680.1:n.-128+1251A>T | |
| NM_005795.5:c.-293+1251A>T (CALCRL) | NP_005786.1:n.-293+1251A>T | |
| XM_005246231.2:c.-328+1251A>T (CALCRL) | XP_005246288.2:n.-328+1251A>T | |
| XM_005246232.2:c.-387+1251A>T (CALCRL) | XP_005246289.2:n.-387+1251A>T | |
| XM_005246234.2:c.-163+1251A>T (CALCRL) | XP_005246291.2:n.-163+1251A>T | |
| XM_005246231.3:c.-328+1251A>T (CALCRL) | XP_005246288.2:n.-328+1251A>T | |
| XM_005246232.3:c.-387+1251A>T (CALCRL) | XP_005246289.2:n.-387+1251A>T | |
| XM_005246234.4:c.-163+1251A>T (CALCRL) | XP_005246291.2:n.-163+1251A>T | |
| XM_017003151.2:c.-222+1251A>T (CALCRL) | XP_016858640.1:n.-222+1251A>T | |
| XR_001739823.1:n.3420-52718T>A (CALCRL-AS1) | ||
| NM_005795.6:c.-293+1251A>T (CALCRL) MANE Select | NP_005786.1:n.-293+1251A>T | |
| NM_001271751.2:c.-128+1251A>T (CALCRL) | NP_001258680.1:n.-128+1251A>T | |
| NM_001369434.1:c.-361+1251A>T (CALCRL) | NP_001356363.1:n.-361+1251A>T | |
| NM_001369435.1:c.-255+1251A>T (CALCRL) | NP_001356364.1:n.-255+1251A>T |