Canonical Allele Identifier: CA404147982

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11576728A>G , CM000681.2:g.11576728A>G GRCh38
NC_000019.9:g.11687543A>G , CM000681.1:g.11687543A>G GRCh37
NC_000019.8:g.11548543A>G NCBI36
NG_028127.1:g.7259T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218758.10:c.377T>C (ACP5) ENSP00000218758.4:p.Ile126Thr
ENST00000412435.7:c.377T>C (ACP5) ENSP00000392374.1:p.Ile126Thr
ENST00000588524.6:n.883T>C (ACP5)
ENST00000588625.2:c.502T>C (ACP5) ENSP00000512197.1:n.502T>C
ENST00000589792.6:c.377T>C (ACP5) ENSP00000468685.2:p.Ile126Thr
ENST00000590832.2:c.377T>C (ACP5) ENSP00000465127.2:p.Ile126Thr
ENST00000591319.2:c.377T>C (ACP5) ENSP00000464831.2:p.Ile126Thr
ENST00000592659.2:c.377T>C (ACP5) ENSP00000465498.2:p.Ile126Thr
ENST00000592828.7:c.377T>C (ACP5) ENSP00000468767.3:p.Ile126Thr
ENST00000649386.2:c.377T>C (ACP5) ENSP00000497140.2:p.Ile126Thr
ENST00000695791.1:c.377T>C (ACP5) ENSP00000512173.1:p.Ile126Thr
ENST00000695809.1:c.374T>C (ACP5) ENSP00000512189.1:p.Ile125Thr
ENST00000695810.1:c.311+66T>C (ACP5) ENSP00000512190.1:n.311+66T>C
ENST00000695811.1:c.377T>C (ACP5) ENSP00000512191.1:p.Ile126Thr
ENST00000695812.1:n.995T>C (ACP5)
ENST00000695813.1:c.374T>C (ACP5) ENSP00000512192.1:p.Ile125Thr
ENST00000695814.1:c.278T>C (ACP5) ENSP00000512193.1:p.Ile93Thr
ENST00000695815.1:c.374T>C (ACP5) ENSP00000512194.1:p.Ile125Thr
ENST00000695816.1:n.805T>C (ACP5)
ENST00000695817.1:c.374T>C (ACP5) ENSP00000512195.1:p.Ile125Thr
ENST00000695818.1:c.262-140T>C (ACP5) ENSP00000512196.1:n.262-140T>C
ENST00000695819.1:n.882T>C (ACP5)
ENST00000695820.1:c.311+66T>C (ACP5) ENSP00000512198.1:n.311+66T>C
ENST00000695821.1:c.311+66T>C (ACP5) ENSP00000512199.1:n.311+66T>C
ENST00000695838.1:n.2226T>C (ACP5)
ENST00000648477.1:c.377T>C (ACP5) MANE Select ENSP00000496973.1:p.Ile126Thr
ENST00000218758.9:c.377T>C (ACP5) ENSP00000218758.4:p.Ile126Thr
ENST00000412435.6:c.377T>C (ACP5) ENSP00000392374.1:p.Ile126Thr
ENST00000433365.2:c.377T>C (ACP5) ENSP00000413456.1:p.Ile126Thr
ENST00000585493.5:c.-94+1375A>G (ZNF627) ENSP00000464997.1:n.-94+1375A>G
ENST00000588524.5:n.883T>C (ACP5)
ENST00000588625.1:n.216T>C (ACP5)
ENST00000590420.1:c.54+536T>C (ACP5) ENSP00000468509.1:n.54+536T>C
ENST00000592828.5:c.377T>C (ACP5) ENSP00000468767.1:p.Ile126Thr
ENST00000593279.5:n.519+1375A>G (ZNF627)
NM_001111034.1:c.377T>C (ACP5) NP_001104504.1:p.Ile126Thr
NM_001111035.1:c.377T>C (ACP5) NP_001104505.1:p.Ile126Thr
NM_001111036.1:c.377T>C (ACP5) NP_001104506.1:p.Ile126Thr
NM_001611.3:c.377T>C (ACP5) NP_001602.1:p.Ile126Thr
XM_005259938.1:c.377T>C (ACP5) XP_005259995.1:p.Ile126Thr
XM_005259939.3:c.377T>C (ACP5) XP_005259996.1:p.Ile126Thr
XM_011527780.1:c.-94+1375A>G (ZNF627) XP_011526082.1:n.-94+1375A>G
XM_011528069.1:c.377T>C (ACP5) XP_011526371.1:p.Ile126Thr
NM_001111034.2:c.377T>C (ACP5) NP_001104504.1:p.Ile126Thr
NM_001111035.2:c.377T>C (ACP5) NP_001104505.1:p.Ile126Thr
NM_001111036.2:c.377T>C (ACP5) NP_001104506.1:p.Ile126Thr
NM_001322023.1:c.377T>C (ACP5) NP_001308952.1:p.Ile126Thr
NM_001611.5:c.377T>C (ACP5) MANE Select NP_001602.1:p.Ile126Thr
XM_011527780.2:c.-94+1375A>G (ZNF627) XP_011526082.1:n.-94+1375A>G
XM_011528069.2:c.377T>C (ACP5) XP_011526371.1:p.Ile126Thr
NM_001111034.3:c.377T>C (ACP5) NP_001104504.1:p.Ile126Thr
NM_001111035.3:c.377T>C (ACP5) NP_001104505.1:p.Ile126Thr
NM_001111036.3:c.377T>C (ACP5) NP_001104506.1:p.Ile126Thr
NM_001322023.2:c.377T>C (ACP5) NP_001308952.1:p.Ile126Thr