Canonical Allele Identifier: CA5450774

Gene: ACBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27211050G>T , CM000672.2:g.27211050G>T	GRCh38
NC_000010.10:g.27499979G>T , CM000672.1:g.27499979G>T	GRCh37
NC_000010.9:g.27539985G>T	NCBI36
NG_032960.2:g.36090C>A
NG_032960.3:g.42625C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396271.8:c.968C>A MANE Select	ENSP00000379568.3:p.Pro323Gln
ENST00000676511.1:c.896C>A	ENSP00000504333.1:p.Pro299Gln
ENST00000676599.1:c.*775C>A	ENSP00000503053.1:n.*775C>A
ENST00000676648.1:c.888C>A	ENSP00000503864.1:p.Thr296=
ENST00000676731.1:c.863C>A	ENSP00000503158.1:p.Pro288Gln
ENST00000676732.1:c.692C>A	ENSP00000504029.1:p.Pro231Gln
ENST00000676997.1:c.968C>A	ENSP00000503467.1:p.Pro323Gln
ENST00000677141.1:c.947C>A	ENSP00000503831.1:p.Pro316Gln
ENST00000677200.1:c.863C>A	ENSP00000503715.1:p.Pro288Gln
ENST00000677248.1:c.692C>A	ENSP00000504367.1:p.Pro231Gln
ENST00000677311.1:c.962C>A	ENSP00000504499.1:p.Pro321Gln
ENST00000677440.1:c.674C>A	ENSP00000504580.1:p.Pro225Gln
ENST00000677441.1:c.863C>A	ENSP00000503415.1:p.Pro288Gln
ENST00000677509.1:c.896C>A	ENSP00000503264.1:p.Pro299Gln
ENST00000677667.1:c.659C>A	ENSP00000503208.1:p.Pro220Gln
ENST00000677901.1:c.392C>A	ENSP00000504374.1:p.Pro131Gln
ENST00000677960.1:c.659C>A	ENSP00000504726.1:p.Pro220Gln
ENST00000678392.1:c.863C>A	ENSP00000504666.1:p.Pro288Gln
ENST00000678446.1:c.659C>A	ENSP00000503800.1:p.Pro220Gln
ENST00000679220.1:c.809C>A	ENSP00000502986.1:p.Pro270Gln
ENST00000679293.1:c.863C>A	ENSP00000503631.1:p.Pro288Gln
ENST00000375888.5:c.995C>A	ENSP00000365049.1:p.Pro332Gln
ENST00000375897.7:c.962C>A	ENSP00000365062.4:p.Pro321Gln
ENST00000375901.5:c.641C>A	ENSP00000365066.1:p.Pro214Gln
ENST00000375905.8:c.863C>A	ENSP00000365070.4:p.Pro288Gln
ENST00000396271.7:c.968C>A	ENSP00000379568.3:p.Pro323Gln
ENST00000476758.1:c.*762C>A	ENSP00000483256.1:n.*762C>A
NM_001042473.3:c.863C>A	NP_001035938.1:p.Pro288Gln
NM_001271512.3:c.962C>A	NP_001258441.1:p.Pro321Gln
NM_001301251.1:c.641C>A	NP_001288180.1:p.Pro214Gln
NM_001301252.1:c.641C>A	NP_001288181.1:p.Pro214Gln
NM_001301253.1:c.641C>A	NP_001288182.1:p.Pro214Gln
NM_001301254.1:c.437C>A	NP_001288183.1:p.Pro146Gln
NM_145698.4:c.968C>A	NP_663736.2:p.Pro323Gln
XM_006717528.2:c.896C>A	XP_006717591.2:p.Pro299Gln
XM_006717530.2:c.1022C>A	XP_006717593.1:p.Pro341Gln
XM_006717531.1:c.1001C>A	XP_006717594.1:p.Pro334Gln
XM_006717533.2:c.692C>A	XP_006717596.2:p.Pro231Gln
XM_006717535.1:c.896C>A	XP_006717598.1:p.Pro299Gln
XM_011519759.1:c.659C>A	XP_011518061.1:p.Pro220Gln
XM_011519760.1:c.674C>A	XP_011518062.1:p.Pro225Gln
NM_001352568.1:c.1022C>A	NP_001339497.1:p.Pro341Gln
NM_001352569.1:c.1001C>A	NP_001339498.1:p.Pro334Gln
NM_001352570.1:c.968C>A	NP_001339499.1:p.Pro323Gln
NM_001352571.1:c.995C>A	NP_001339500.1:p.Pro332Gln
NM_001352572.1:c.989C>A	NP_001339501.1:p.Pro330Gln
NM_001352573.1:c.947C>A	NP_001339502.1:p.Pro316Gln
NM_001352574.1:c.896C>A	NP_001339503.1:p.Pro299Gln
NM_001352575.1:c.896C>A	NP_001339504.1:p.Pro299Gln
NM_001352576.1:c.896C>A	NP_001339505.1:p.Pro299Gln
NM_001352577.1:c.863C>A	NP_001339506.1:p.Pro288Gln
NM_001352578.1:c.863C>A	NP_001339507.1:p.Pro288Gln
NM_001352579.1:c.863C>A	NP_001339508.1:p.Pro288Gln
NM_001352580.1:c.809C>A	NP_001339509.1:p.Pro270Gln
NM_001352581.1:c.797C>A	NP_001339510.1:p.Pro266Gln
NM_001352582.1:c.659C>A	NP_001339511.1:p.Pro220Gln
NM_001352583.1:c.641C>A	NP_001339512.1:p.Pro214Gln
NM_001352584.1:c.641C>A	NP_001339513.1:p.Pro214Gln
NM_001352585.1:c.674C>A	NP_001339514.1:p.Pro225Gln
NM_001352586.1:c.791C>A	NP_001339515.1:p.Pro264Gln
NM_001352587.1:c.758C>A	NP_001339516.1:p.Pro253Gln
NM_001352588.1:c.764C>A	NP_001339517.1:p.Pro255Gln
XM_006717528.4:c.1193C>A	XP_006717591.3:p.Pro398Gln
XM_017016884.2:c.1193C>A	XP_016872373.1:p.Pro398Gln
XM_017016885.2:c.1160C>A	XP_016872374.1:p.Pro387Gln
XM_017016886.2:c.1160C>A	XP_016872375.1:p.Pro387Gln
XM_017016887.2:c.1022C>A	XP_016872376.1:p.Pro341Gln
XM_017016888.2:c.1001C>A	XP_016872377.1:p.Pro334Gln
XM_017016889.2:c.989C>A	XP_016872378.1:p.Pro330Gln
XM_017016890.2:c.989C>A	XP_016872379.1:p.Pro330Gln
XM_017016893.2:c.956C>A	XP_016872382.1:p.Pro319Gln
XM_017016894.2:c.956C>A	XP_016872383.1:p.Pro319Gln
XM_017016895.2:c.896C>A	XP_016872384.1:p.Pro299Gln
XM_017016896.1:c.863C>A	XP_016872385.1:p.Pro288Gln
XM_017016898.2:c.764C>A	XP_016872387.1:p.Pro255Gln
XM_017016900.1:c.674C>A	XP_016872389.1:p.Pro225Gln
XM_017016901.1:c.674C>A	XP_016872390.1:p.Pro225Gln
XM_017016902.1:c.674C>A	XP_016872391.1:p.Pro225Gln
XM_017016904.1:c.641C>A	XP_016872393.1:p.Pro214Gln
XM_017016905.1:c.641C>A	XP_016872394.1:p.Pro214Gln
XM_024448248.1:c.797C>A	XP_024304016.1:p.Pro266Gln
XM_024448249.1:c.785C>A	XP_024304017.1:p.Pro262Gln
NM_145698.5:c.968C>A MANE Select	NP_663736.2:p.Pro323Gln
NM_001042473.4:c.863C>A	NP_001035938.1:p.Pro288Gln
NM_001301251.2:c.641C>A	NP_001288180.1:p.Pro214Gln
NM_001301252.2:c.641C>A	NP_001288181.1:p.Pro214Gln
NM_001301253.2:c.641C>A	NP_001288182.1:p.Pro214Gln
NM_001301254.2:c.437C>A	NP_001288183.1:p.Pro146Gln
NM_001352574.2:c.896C>A	NP_001339503.1:p.Pro299Gln
NM_001352575.2:c.896C>A	NP_001339504.1:p.Pro299Gln
NM_001352577.2:c.863C>A	NP_001339506.1:p.Pro288Gln
NM_001352580.2:c.809C>A	NP_001339509.1:p.Pro270Gln
NM_001352582.2:c.659C>A	NP_001339511.1:p.Pro220Gln
NM_001352576.2:c.896C>A	NP_001339505.1:p.Pro299Gln
NM_001352578.2:c.863C>A	NP_001339507.1:p.Pro288Gln
NM_001352579.2:c.863C>A	NP_001339508.1:p.Pro288Gln