Canonical Allele Identifier: CA204460009
Community Standard Title: NM_145698.5(ACBD5):c.1566-187G>C
Gene: ACBD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27197629C>G , CM000672.2:g.27197629C>G GRCh38
NC_000010.10:g.27486558C>G , CM000672.1:g.27486558C>G GRCh37
NC_000010.9:g.27526564C>G NCBI36
NG_032960.2:g.49511G>C
NG_032960.3:g.56046G>C

Transcript Alleles

HGVS Amino-acid Change
NM_145698.5:c.1566-187G>C MANE Select NP_663736.2:n.1566-187G>C
ENST00000396271.8:c.1566-187G>C MANE Select ENSP00000379568.3:n.1566-187G>C
NM_001042473.3:c.1461-187G>C NP_001035938.1:n.1461-187G>C
NM_001042473.4:c.1461-187G>C NP_001035938.1:n.1461-187G>C
NM_001271512.3:c.1560-187G>C NP_001258441.1:n.1560-187G>C
NM_001301251.1:c.1239-187G>C NP_001288180.1:n.1239-187G>C
NM_001301251.2:c.1239-187G>C NP_001288180.1:n.1239-187G>C
NM_001301252.1:c.1239-187G>C NP_001288181.1:n.1239-187G>C
NM_001301252.2:c.1239-187G>C NP_001288181.1:n.1239-187G>C
NM_001301253.1:c.1239-187G>C NP_001288182.1:n.1239-187G>C
NM_001301253.2:c.1239-187G>C NP_001288182.1:n.1239-187G>C
NM_001301254.1:c.1035-187G>C NP_001288183.1:n.1035-187G>C
NM_001301254.2:c.1035-187G>C NP_001288183.1:n.1035-187G>C
NM_001352568.1:c.1620-187G>C NP_001339497.1:n.1620-187G>C
NM_001352569.1:c.1599-187G>C NP_001339498.1:n.1599-187G>C
NM_001352570.1:c.1565+6811G>C NP_001339499.1:n.1565+6811G>C
NM_001352571.1:c.1593-187G>C NP_001339500.1:n.1593-187G>C
NM_001352572.1:c.1587-187G>C NP_001339501.1:n.1587-187G>C
NM_001352573.1:c.1545-187G>C NP_001339502.1:n.1545-187G>C
NM_001352574.1:c.1494-187G>C NP_001339503.1:n.1494-187G>C
NM_001352574.2:c.1494-187G>C NP_001339503.1:n.1494-187G>C
NM_001352575.1:c.1494-187G>C NP_001339504.1:n.1494-187G>C
NM_001352575.2:c.1494-187G>C NP_001339504.1:n.1494-187G>C
NM_001352576.1:c.1494-187G>C NP_001339505.1:n.1494-187G>C
NM_001352576.2:c.1494-187G>C NP_001339505.1:n.1494-187G>C
NM_001352577.1:c.1461-187G>C NP_001339506.1:n.1461-187G>C
NM_001352577.2:c.1461-187G>C NP_001339506.1:n.1461-187G>C
NM_001352578.1:c.1461-187G>C NP_001339507.1:n.1461-187G>C
NM_001352578.2:c.1461-187G>C NP_001339507.1:n.1461-187G>C
NM_001352579.1:c.1461-187G>C NP_001339508.1:n.1461-187G>C
NM_001352579.2:c.1461-187G>C NP_001339508.1:n.1461-187G>C
NM_001352580.1:c.1407-187G>C NP_001339509.1:n.1407-187G>C
NM_001352580.2:c.1407-187G>C NP_001339509.1:n.1407-187G>C
NM_001352581.1:c.1395-187G>C NP_001339510.1:n.1395-187G>C
NM_001352582.1:c.1257-187G>C NP_001339511.1:n.1257-187G>C
NM_001352582.2:c.1257-187G>C NP_001339511.1:n.1257-187G>C
NM_001352583.1:c.1239-187G>C NP_001339512.1:n.1239-187G>C
NM_001352584.1:c.1239-187G>C NP_001339513.1:n.1239-187G>C
NM_001352585.1:c.1272-187G>C NP_001339514.1:n.1272-187G>C
NM_001352586.1:c.1389-187G>C NP_001339515.1:n.1389-187G>C
NM_001352587.1:c.1356-187G>C NP_001339516.1:n.1356-187G>C
NM_001352588.1:c.1362-187G>C NP_001339517.1:n.1362-187G>C
NM_145698.4:c.1566-187G>C NP_663736.2:n.1566-187G>C
ENST00000375888.5:c.1593-187G>C ENSP00000365049.1:n.1593-187G>C
ENST00000375897.7:c.1560-187G>C ENSP00000365062.4:n.1560-187G>C
ENST00000375901.5:c.1239-187G>C ENSP00000365066.1:n.1239-187G>C
ENST00000375905.8:c.1461-187G>C ENSP00000365070.4:n.1461-187G>C
ENST00000396271.7:c.1566-187G>C ENSP00000379568.3:n.1566-187G>C
ENST00000676511.1:c.1493+6811G>C ENSP00000504333.1:n.1493+6811G>C
ENST00000676599.1:c.*1373-187G>C ENSP00000503053.1:n.*1373-187G>C
ENST00000676648.1:c.*538-187G>C ENSP00000503864.1:n.*538-187G>C
ENST00000676732.1:c.1290-187G>C ENSP00000504029.1:n.1290-187G>C
ENST00000676997.1:c.1565+6811G>C ENSP00000503467.1:n.1565+6811G>C
ENST00000677141.1:c.1545-187G>C ENSP00000503831.1:n.1545-187G>C
ENST00000677200.1:c.1353-187G>C ENSP00000503715.1:n.1353-187G>C
ENST00000677248.1:c.1290-187G>C ENSP00000504367.1:n.1290-187G>C
ENST00000677311.1:c.1450-187G>C ENSP00000504499.1:n.1450-187G>C
ENST00000677440.1:c.1271+6811G>C ENSP00000504580.1:n.1271+6811G>C
ENST00000677441.1:c.*13-187G>C ENSP00000503415.1:n.*13-187G>C
ENST00000677509.1:c.1494-187G>C ENSP00000503264.1:n.1494-187G>C
ENST00000677667.1:c.1257-187G>C ENSP00000503208.1:n.1257-187G>C
ENST00000677901.1:c.990-187G>C ENSP00000504374.1:n.990-187G>C
ENST00000677960.1:c.1257-187G>C ENSP00000504726.1:n.1257-187G>C
ENST00000678392.1:c.1261-187G>C ENSP00000504666.1:n.1261-187G>C
ENST00000678446.1:c.1257-187G>C ENSP00000503800.1:n.1257-187G>C
ENST00000679220.1:c.1407-187G>C ENSP00000502986.1:n.1407-187G>C
ENST00000679293.1:c.1461-187G>C ENSP00000503631.1:n.1461-187G>C
XM_006717528.2:c.1494-187G>C XP_006717591.2:n.1494-187G>C
XM_006717528.4:c.1791-187G>C XP_006717591.3:n.1791-187G>C
XM_006717530.2:c.1620-187G>C XP_006717593.1:n.1620-187G>C
XM_006717531.1:c.1599-187G>C XP_006717594.1:n.1599-187G>C
XM_006717533.2:c.1290-187G>C XP_006717596.2:n.1290-187G>C
XM_006717535.1:c.1494-187G>C XP_006717598.1:n.1494-187G>C
XM_011519759.1:c.1257-187G>C XP_011518061.1:n.1257-187G>C
XM_011519760.1:c.1272-187G>C XP_011518062.1:n.1272-187G>C
XM_017016884.2:c.1790+6811G>C XP_016872373.1:n.1790+6811G>C
XM_017016885.2:c.1757+6811G>C XP_016872374.1:n.1757+6811G>C
XM_017016886.2:c.1758-187G>C XP_016872375.1:n.1758-187G>C
XM_017016887.2:c.1619+6811G>C XP_016872376.1:n.1619+6811G>C
XM_017016888.2:c.1598+6811G>C XP_016872377.1:n.1598+6811G>C
XM_017016889.2:c.1586+6811G>C XP_016872378.1:n.1586+6811G>C
XM_017016890.2:c.1586+6811G>C XP_016872379.1:n.1586+6811G>C
XM_017016893.2:c.1553+6811G>C XP_016872382.1:n.1553+6811G>C
XM_017016894.2:c.1554-187G>C XP_016872383.1:n.1554-187G>C
XM_017016895.2:c.1493+6811G>C XP_016872384.1:n.1493+6811G>C
XM_017016896.1:c.1460+6811G>C XP_016872385.1:n.1460+6811G>C
XM_017016898.2:c.1361+6811G>C XP_016872387.1:n.1361+6811G>C
XM_017016900.1:c.1271+6811G>C XP_016872389.1:n.1271+6811G>C
XM_017016901.1:c.1271+6811G>C XP_016872390.1:n.1271+6811G>C
XM_017016902.1:c.1272-187G>C XP_016872391.1:n.1272-187G>C
XM_017016904.1:c.1238+6811G>C XP_016872393.1:n.1238+6811G>C
XM_017016905.1:c.1238+6811G>C XP_016872394.1:n.1238+6811G>C
XM_024448248.1:c.1394+6811G>C XP_024304016.1:n.1394+6811G>C
XM_024448249.1:c.1383-187G>C XP_024304017.1:n.1383-187G>C