Canonical Allele Identifier: CA2576148022
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222932-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222932C>A , CM000679.2:g.7222932C>A GRCh38
NC_000017.10:g.7126251C>A , CM000679.1:g.7126251C>A GRCh37
NC_000017.9:g.7066975C>A NCBI36
NG_007975.1:g.8099C>A
NG_008391.2:g.2119G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1077+67C>A MANE Select ENSP00000349297.5:n.1077+67C>A
ENST00000322910.9:c.*1032+67C>A ENSP00000325395.5:n.*1032+67C>A
ENST00000350303.9:c.1011+67C>A ENSP00000344152.5:n.1011+67C>A
ENST00000356839.9:c.1077+67C>A ENSP00000349297.5:n.1077+67C>A
ENST00000543245.6:c.1146+67C>A ENSP00000438689.2:n.1146+67C>A
ENST00000578824.5:n.293C>A
ENST00000582379.1:n.528C>A
ENST00000583858.5:c.106+67C>A
ENST00000585203.6:n.85C>A
NM_000018.3:c.1077+67C>A NP_000009.1:n.1077+67C>A
NM_001033859.2:c.1011+67C>A NP_001029031.1:n.1011+67C>A
NM_001270447.1:c.1146+67C>A NP_001257376.1:n.1146+67C>A
NM_001270448.1:c.849+67C>A NP_001257377.1:n.849+67C>A
XM_006721516.2:c.1077+67C>A XP_006721579.2:n.1077+67C>A
XM_011523829.1:c.1077+67C>A XP_011522131.1:n.1077+67C>A
XM_011523830.1:c.1077+67C>A XP_011522132.1:n.1077+67C>A
XR_934021.1:n.1184+67C>A
XR_934022.1:n.1184+67C>A
XR_934023.1:n.1184+67C>A
XM_006721516.3:c.1077+67C>A XP_006721579.2:n.1077+67C>A
XM_011523829.2:c.1077+67C>A XP_011522131.1:n.1077+67C>A
XM_011523830.2:c.1077+67C>A XP_011522132.1:n.1077+67C>A
XM_024450741.1:c.1077+67C>A XP_024306509.1:n.1077+67C>A
XR_934021.2:n.1136+67C>A
XR_934022.2:n.1136+67C>A
XR_934023.2:n.1136+67C>A
NM_000018.4:c.1077+67C>A MANE Select NP_000009.1:n.1077+67C>A
NM_001033859.3:c.1011+67C>A NP_001029031.1:n.1011+67C>A
NM_001270447.2:c.1146+67C>A NP_001257376.1:n.1146+67C>A
NM_001270448.2:c.849+67C>A NP_001257377.1:n.849+67C>A
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