Canonical Allele Identifier: CA5450899

Gene: ACBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27219829T>C , CM000672.2:g.27219829T>C	GRCh38
NC_000010.10:g.27508758T>C , CM000672.1:g.27508758T>C	GRCh37
NC_000010.9:g.27548764T>C	NCBI36
NG_032960.2:g.27311A>G
NG_032960.3:g.33846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396271.8:c.519A>G MANE Select	ENSP00000379568.3:p.Pro173=
ENST00000676511.1:c.447A>G	ENSP00000504333.1:p.Pro149=
ENST00000676599.1:c.*326A>G	ENSP00000503053.1:n.*326A>G
ENST00000676648.1:c.546A>G	ENSP00000503864.1:p.Pro182=
ENST00000676731.1:c.414A>G	ENSP00000503158.1:p.Pro138=
ENST00000676732.1:c.447A>G	ENSP00000504029.1:p.Pro149=
ENST00000676997.1:c.519A>G	ENSP00000503467.1:p.Pro173=
ENST00000677141.1:c.498A>G	ENSP00000503831.1:p.Pro166=
ENST00000677200.1:c.414A>G	ENSP00000503715.1:p.Pro138=
ENST00000677248.1:c.447A>G	ENSP00000504367.1:p.Pro149=
ENST00000677311.1:c.513A>G	ENSP00000504499.1:p.Pro171=
ENST00000677440.1:c.225A>G	ENSP00000504580.1:p.Pro75=
ENST00000677441.1:c.414A>G	ENSP00000503415.1:p.Pro138=
ENST00000677509.1:c.447A>G	ENSP00000503264.1:p.Pro149=
ENST00000677667.1:c.414A>G	ENSP00000503208.1:p.Pro138=
ENST00000677901.1:c.147A>G	ENSP00000504374.1:p.Pro49=
ENST00000677960.1:c.414A>G	ENSP00000504726.1:p.Pro138=
ENST00000678392.1:c.414A>G	ENSP00000504666.1:p.Pro138=
ENST00000678446.1:c.414A>G	ENSP00000503800.1:p.Pro138=
ENST00000679220.1:c.386-26A>G	ENSP00000502986.1:n.386-26A>G
ENST00000679293.1:c.414A>G	ENSP00000503631.1:p.Pro138=
ENST00000375888.5:c.546A>G	ENSP00000365049.1:p.Pro182=
ENST00000375897.7:c.513A>G	ENSP00000365062.4:p.Pro171=
ENST00000375901.5:c.192A>G	ENSP00000365066.1:p.Pro64=
ENST00000375905.8:c.414A>G	ENSP00000365070.4:p.Pro138=
ENST00000396271.7:c.519A>G	ENSP00000379568.3:p.Pro173=
ENST00000412279.1:c.447A>G	ENSP00000393398.1:p.Pro149=
ENST00000426079.5:c.447A>G	ENSP00000401591.2:p.Pro149=
ENST00000476758.1:c.*313A>G	ENSP00000483256.1:n.*313A>G
NM_001042473.3:c.414A>G	NP_001035938.1:p.Pro138=
NM_001271512.3:c.513A>G	NP_001258441.1:p.Pro171=
NM_001301251.1:c.192A>G	NP_001288180.1:p.Pro64=
NM_001301252.1:c.192A>G	NP_001288181.1:p.Pro64=
NM_001301253.1:c.192A>G	NP_001288182.1:p.Pro64=
NM_001301254.1:c.192A>G	NP_001288183.1:p.Pro64=
NM_145698.4:c.519A>G	NP_663736.2:p.Pro173=
XM_006717528.2:c.447A>G	XP_006717591.2:p.Pro149=
XM_006717530.2:c.573A>G	XP_006717593.1:p.Pro191=
XM_006717531.1:c.552A>G	XP_006717594.1:p.Pro184=
XM_006717533.2:c.447A>G	XP_006717596.2:p.Pro149=
XM_006717535.1:c.447A>G	XP_006717598.1:p.Pro149=
XM_011519759.1:c.414A>G	XP_011518061.1:p.Pro138=
XM_011519760.1:c.225A>G	XP_011518062.1:p.Pro75=
NM_001352568.1:c.573A>G	NP_001339497.1:p.Pro191=
NM_001352569.1:c.552A>G	NP_001339498.1:p.Pro184=
NM_001352570.1:c.519A>G	NP_001339499.1:p.Pro173=
NM_001352571.1:c.546A>G	NP_001339500.1:p.Pro182=
NM_001352572.1:c.540A>G	NP_001339501.1:p.Pro180=
NM_001352573.1:c.524-26A>G	NP_001339502.1:n.524-26A>G
NM_001352574.1:c.447A>G	NP_001339503.1:p.Pro149=
NM_001352575.1:c.447A>G	NP_001339504.1:p.Pro149=
NM_001352576.1:c.447A>G	NP_001339505.1:p.Pro149=
NM_001352577.1:c.414A>G	NP_001339506.1:p.Pro138=
NM_001352578.1:c.414A>G	NP_001339507.1:p.Pro138=
NM_001352579.1:c.414A>G	NP_001339508.1:p.Pro138=
NM_001352580.1:c.386-26A>G	NP_001339509.1:n.386-26A>G
NM_001352581.1:c.552A>G	NP_001339510.1:p.Pro184=
NM_001352582.1:c.414A>G	NP_001339511.1:p.Pro138=
NM_001352583.1:c.192A>G	NP_001339512.1:p.Pro64=
NM_001352584.1:c.192A>G	NP_001339513.1:p.Pro64=
NM_001352585.1:c.225A>G	NP_001339514.1:p.Pro75=
NM_001352586.1:c.546A>G	NP_001339515.1:p.Pro182=
NM_001352587.1:c.513A>G	NP_001339516.1:p.Pro171=
NM_001352588.1:c.519A>G	NP_001339517.1:p.Pro173=
XM_006717528.4:c.744A>G	XP_006717591.3:p.Pro248=
XM_017016884.2:c.744A>G	XP_016872373.1:p.Pro248=
XM_017016885.2:c.711A>G	XP_016872374.1:p.Pro237=
XM_017016886.2:c.711A>G	XP_016872375.1:p.Pro237=
XM_017016887.2:c.573A>G	XP_016872376.1:p.Pro191=
XM_017016888.2:c.552A>G	XP_016872377.1:p.Pro184=
XM_017016889.2:c.540A>G	XP_016872378.1:p.Pro180=
XM_017016890.2:c.744A>G	XP_016872379.1:p.Pro248=
XM_017016893.2:c.711A>G	XP_016872382.1:p.Pro237=
XM_017016894.2:c.711A>G	XP_016872383.1:p.Pro237=
XM_017016895.2:c.447A>G	XP_016872384.1:p.Pro149=
XM_017016896.1:c.414A>G	XP_016872385.1:p.Pro138=
XM_017016898.2:c.519A>G	XP_016872387.1:p.Pro173=
XM_017016900.1:c.225A>G	XP_016872389.1:p.Pro75=
XM_017016901.1:c.225A>G	XP_016872390.1:p.Pro75=
XM_017016902.1:c.225A>G	XP_016872391.1:p.Pro75=
XM_017016904.1:c.192A>G	XP_016872393.1:p.Pro64=
XM_017016905.1:c.192A>G	XP_016872394.1:p.Pro64=
XM_024448248.1:c.552A>G	XP_024304016.1:p.Pro184=
XM_024448249.1:c.540A>G	XP_024304017.1:p.Pro180=
NM_145698.5:c.519A>G MANE Select	NP_663736.2:p.Pro173=
NM_001042473.4:c.414A>G	NP_001035938.1:p.Pro138=
NM_001301251.2:c.192A>G	NP_001288180.1:p.Pro64=
NM_001301252.2:c.192A>G	NP_001288181.1:p.Pro64=
NM_001301253.2:c.192A>G	NP_001288182.1:p.Pro64=
NM_001301254.2:c.192A>G	NP_001288183.1:p.Pro64=
NM_001352574.2:c.447A>G	NP_001339503.1:p.Pro149=
NM_001352575.2:c.447A>G	NP_001339504.1:p.Pro149=
NM_001352577.2:c.414A>G	NP_001339506.1:p.Pro138=
NM_001352580.2:c.386-26A>G	NP_001339509.1:n.386-26A>G
NM_001352582.2:c.414A>G	NP_001339511.1:p.Pro138=
NM_001352576.2:c.447A>G	NP_001339505.1:p.Pro149=
NM_001352578.2:c.414A>G	NP_001339507.1:p.Pro138=
NM_001352579.2:c.414A>G	NP_001339508.1:p.Pro138=