Canonical Allele Identifier: CA397725513
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224499A>G , CM000679.2:g.7224499A>G GRCh38
NC_000017.10:g.7127818A>G , CM000679.1:g.7127818A>G GRCh37
NC_000017.9:g.7068542A>G NCBI36
NG_007975.1:g.9666A>G
NG_008391.2:g.552T>C
NG_033038.1:g.15046T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1625A>G MANE Select ENSP00000349297.5:p.Gln542Arg
ENST00000322910.9:c.*1580A>G ENSP00000325395.5:n.*1580A>G
ENST00000350303.9:c.1559A>G ENSP00000344152.5:p.Gln520Arg
ENST00000356839.9:c.1625A>G ENSP00000349297.5:p.Gln542Arg
ENST00000542255.6:c.483A>G
ENST00000543245.6:c.1694A>G ENSP00000438689.2:p.Gln565Arg
ENST00000578319.5:n.206A>G
ENST00000578711.1:n.995A>G
ENST00000578809.5:n.197A>G
ENST00000579391.1:n.229A>G
ENST00000579425.5:n.741A>G
ENST00000579546.1:c.360A>G
ENST00000579894.5:n.412A>G
ENST00000582450.1:n.133A>G
ENST00000583074.5:n.246A>G
ENST00000583848.5:c.11A>G ENSP00000466487.1:p.Gln4Arg
ENST00000583850.5:n.396A>G
ENST00000583858.5:c.556A>G
ENST00000585203.6:n.816A>G
NM_000018.3:c.1625A>G NP_000009.1:p.Gln542Arg
NM_001033859.2:c.1559A>G NP_001029031.1:p.Gln520Arg
NM_001270447.1:c.1694A>G NP_001257376.1:p.Gln565Arg
NM_001270448.1:c.1397A>G NP_001257377.1:p.Gln466Arg
XM_006721516.2:c.1625A>G XP_006721579.2:p.Gln542Arg
XM_011523829.1:c.1523A>G XP_011522131.1:p.Gln508Arg
XM_011523830.1:c.1523A>G XP_011522132.1:p.Gln508Arg
XR_934021.1:n.1728A>G
XR_934022.1:n.1634A>G
XR_934023.1:n.1634A>G
XM_006721516.3:c.1625A>G XP_006721579.2:p.Gln542Arg
XM_011523829.2:c.1523A>G XP_011522131.1:p.Gln508Arg
XM_011523830.2:c.1523A>G XP_011522132.1:p.Gln508Arg
XM_024450741.1:c.1613A>G XP_024306509.1:p.Gln538Arg
XR_934021.2:n.1680A>G
XR_934022.2:n.1586A>G
XR_934023.2:n.1586A>G
NM_000018.4:c.1625A>G MANE Select NP_000009.1:p.Gln542Arg
NM_001033859.3:c.1559A>G NP_001029031.1:p.Gln520Arg
NM_001270447.2:c.1694A>G NP_001257376.1:p.Gln565Arg
NM_001270448.2:c.1397A>G NP_001257377.1:p.Gln466Arg