Canonical Allele Identifier: CA397725602
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224540A>C , CM000679.2:g.7224540A>C GRCh38
NC_000017.10:g.7127859A>C , CM000679.1:g.7127859A>C GRCh37
NC_000017.9:g.7068583A>C NCBI36
NG_007975.1:g.9707A>C
NG_008391.2:g.511T>G
NG_033038.1:g.15005T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1666A>C MANE Select ENSP00000349297.5:p.Lys556Gln
ENST00000322910.9:c.*1621A>C ENSP00000325395.5:n.*1621A>C
ENST00000350303.9:c.1600A>C ENSP00000344152.5:p.Lys534Gln
ENST00000356839.9:c.1666A>C ENSP00000349297.5:p.Lys556Gln
ENST00000542255.6:c.524A>C
ENST00000543245.6:c.1735A>C ENSP00000438689.2:p.Lys579Gln
ENST00000578319.5:n.247A>C
ENST00000578711.1:n.1036A>C
ENST00000578809.5:n.238A>C
ENST00000579391.1:n.270A>C
ENST00000579425.5:n.782A>C
ENST00000579546.1:c.401A>C
ENST00000582450.1:n.174A>C
ENST00000583074.5:n.287A>C
ENST00000583848.5:c.52A>C ENSP00000466487.1:p.Lys18Gln
ENST00000583850.5:n.437A>C
ENST00000583858.5:c.597A>C
ENST00000585203.6:n.857A>C
NM_000018.3:c.1666A>C NP_000009.1:p.Lys556Gln
NM_001033859.2:c.1600A>C NP_001029031.1:p.Lys534Gln
NM_001270447.1:c.1735A>C NP_001257376.1:p.Lys579Gln
NM_001270448.1:c.1438A>C NP_001257377.1:p.Lys480Gln
XM_006721516.2:c.1666A>C XP_006721579.2:p.Lys556Gln
XM_011523829.1:c.1564A>C XP_011522131.1:p.Lys522Gln
XM_011523830.1:c.1564A>C XP_011522132.1:p.Lys522Gln
XR_934021.1:n.1769A>C
XR_934022.1:n.1675A>C
XR_934023.1:n.1675A>C
XM_006721516.3:c.1666A>C XP_006721579.2:p.Lys556Gln
XM_011523829.2:c.1564A>C XP_011522131.1:p.Lys522Gln
XM_011523830.2:c.1564A>C XP_011522132.1:p.Lys522Gln
XM_024450741.1:c.1654A>C XP_024306509.1:p.Lys552Gln
XR_934021.2:n.1721A>C
XR_934022.2:n.1627A>C
XR_934023.2:n.1627A>C
NM_000018.4:c.1666A>C MANE Select NP_000009.1:p.Lys556Gln
NM_001033859.3:c.1600A>C NP_001029031.1:p.Lys534Gln
NM_001270447.2:c.1735A>C NP_001257376.1:p.Lys579Gln
NM_001270448.2:c.1438A>C NP_001257377.1:p.Lys480Gln