Linked Data
ClinVar Variation Id:
29835
ClinVar RCV Id:
RCV000022711
dbSNP Id:
rs387906672
gnomAD v2:
19-11687191-A-G
gnomAD v4:
19-11576376-A-G
PubMed:
PMID:21217752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11576376A>G , CM000681.2:g.11576376A>G | GRCh38 |
| NC_000019.9:g.11687191A>G , CM000681.1:g.11687191A>G | GRCh37 |
| NC_000019.8:g.11548191A>G | NCBI36 |
| NG_028127.1:g.7611T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000218758.10:c.602T>C (ACP5) | ENSP00000218758.4:p.Leu201Pro | |
| ENST00000412435.7:c.602T>C (ACP5) | ENSP00000392374.1:p.Leu201Pro | |
| ENST00000588524.6:n.1235T>C (ACP5) | ||
| ENST00000589792.6:c.602T>C (ACP5) | ENSP00000468685.2:p.Leu201Pro | |
| ENST00000590832.2:c.602T>C (ACP5) | ENSP00000465127.2:p.Leu201Pro | |
| ENST00000591319.2:c.602T>C (ACP5) | ENSP00000464831.2:p.Leu201Pro | |
| ENST00000592659.2:c.602T>C (ACP5) | ENSP00000465498.2:p.Leu201Pro | |
| ENST00000592828.7:c.602T>C (ACP5) | ENSP00000468767.3:p.Leu201Pro | |
| ENST00000649386.2:c.602T>C (ACP5) | ENSP00000497140.2:p.Leu201Pro | |
| ENST00000695791.1:c.602T>C (ACP5) | ENSP00000512173.1:p.Leu201Pro | |
| ENST00000695809.1:c.599T>C (ACP5) | ENSP00000512189.1:p.Leu200Pro | |
| ENST00000695810.1:c.524T>C (ACP5) | ENSP00000512190.1:p.Leu175Pro | |
| ENST00000695811.1:c.602T>C (ACP5) | ENSP00000512191.1:p.Leu201Pro | |
| ENST00000695812.1:n.1220T>C (ACP5) | ||
| ENST00000695813.1:c.599T>C (ACP5) | ENSP00000512192.1:p.Leu200Pro | |
| ENST00000695814.1:c.503T>C (ACP5) | ENSP00000512193.1:p.Leu168Pro | |
| ENST00000695815.1:c.599T>C (ACP5) | ENSP00000512194.1:p.Leu200Pro | |
| ENST00000695816.1:n.1157T>C (ACP5) | ||
| ENST00000695817.1:c.599T>C (ACP5) | ENSP00000512195.1:p.Leu200Pro | |
| ENST00000695818.1:c.*105T>C (ACP5) | ENSP00000512196.1:n.*105T>C | |
| ENST00000695819.1:n.1107T>C (ACP5) | ||
| ENST00000695820.1:c.524T>C (ACP5) | ENSP00000512198.1:p.Leu175Pro | |
| ENST00000695821.1:c.524T>C (ACP5) | ENSP00000512199.1:p.Leu175Pro | |
| ENST00000695838.1:n.2578T>C (ACP5) | ||
| ENST00000648477.1:c.602T>C (ACP5) MANE Select | ENSP00000496973.1:p.Leu201Pro | |
| ENST00000218758.9:c.602T>C (ACP5) | ENSP00000218758.4:p.Leu201Pro | |
| ENST00000412435.6:c.602T>C (ACP5) | ENSP00000392374.1:p.Leu201Pro | |
| ENST00000433365.2:c.602T>C (ACP5) | ENSP00000413456.1:p.Leu201Pro | |
| ENST00000585493.5:c.-94+1023A>G (ZNF627) | ENSP00000464997.1:n.-94+1023A>G | |
| ENST00000590420.1:c.54+888T>C (ACP5) | ENSP00000468509.1:n.54+888T>C | |
| ENST00000592828.5:c.602T>C (ACP5) | ENSP00000468767.1:p.Leu201Pro | |
| ENST00000593279.5:n.519+1023A>G (ZNF627) | ||
| NM_001111034.1:c.602T>C (ACP5) | NP_001104504.1:p.Leu201Pro | |
| NM_001111035.1:c.602T>C (ACP5) | NP_001104505.1:p.Leu201Pro | |
| NM_001111036.1:c.602T>C (ACP5) | NP_001104506.1:p.Leu201Pro | |
| NM_001611.3:c.602T>C (ACP5) | NP_001602.1:p.Leu201Pro | |
| XM_005259938.1:c.602T>C (ACP5) | XP_005259995.1:p.Leu201Pro | |
| XM_005259939.3:c.602T>C (ACP5) | XP_005259996.1:p.Leu201Pro | |
| XM_011527780.1:c.-94+1023A>G (ZNF627) | XP_011526082.1:n.-94+1023A>G | |
| XM_011528069.1:c.602T>C (ACP5) | XP_011526371.1:p.Leu201Pro | |
| NM_001111034.2:c.602T>C (ACP5) | NP_001104504.1:p.Leu201Pro | |
| NM_001111035.2:c.602T>C (ACP5) | NP_001104505.1:p.Leu201Pro | |
| NM_001111036.2:c.602T>C (ACP5) | NP_001104506.1:p.Leu201Pro | |
| NM_001322023.1:c.602T>C (ACP5) | NP_001308952.1:p.Leu201Pro | |
| NM_001611.5:c.602T>C (ACP5) MANE Select | NP_001602.1:p.Leu201Pro | |
| XM_011527780.2:c.-94+1023A>G (ZNF627) | XP_011526082.1:n.-94+1023A>G | |
| XM_011528069.2:c.602T>C (ACP5) | XP_011526371.1:p.Leu201Pro | |
| NM_001111034.3:c.602T>C (ACP5) | NP_001104504.1:p.Leu201Pro | |
| NM_001111035.3:c.602T>C (ACP5) | NP_001104505.1:p.Leu201Pro | |
| NM_001111036.3:c.602T>C (ACP5) | NP_001104506.1:p.Leu201Pro | |
| NM_001322023.2:c.602T>C (ACP5) | NP_001308952.1:p.Leu201Pro |