Canonical Allele Identifier: CA2576148110
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2914700
ClinVar RCV Id: RCV003601910
gnomAD v4: 17-7224475-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224475T>C , CM000679.2:g.7224475T>C GRCh38
NC_000017.10:g.7127794T>C , CM000679.1:g.7127794T>C GRCh37
NC_000017.9:g.7068518T>C NCBI36
NG_007975.1:g.9642T>C
NG_008391.2:g.576A>G
NG_033038.1:g.15070A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1606-5T>C MANE Select ENSP00000349297.5:n.1606-5T>C
ENST00000322910.9:c.*1561-5T>C ENSP00000325395.5:n.*1561-5T>C
ENST00000350303.9:c.1540-5T>C ENSP00000344152.5:n.1540-5T>C
ENST00000356839.9:c.1606-5T>C ENSP00000349297.5:n.1606-5T>C
ENST00000542255.6:c.464-5T>C
ENST00000543245.6:c.1675-5T>C ENSP00000438689.2:n.1675-5T>C
ENST00000578319.5:n.182T>C
ENST00000578711.1:n.971T>C
ENST00000578809.5:n.178-5T>C
ENST00000579391.1:n.214-9T>C
ENST00000579425.5:n.722-5T>C
ENST00000579546.1:c.345-9T>C
ENST00000579894.5:n.393-5T>C
ENST00000582450.1:n.114-5T>C
ENST00000583074.5:n.227-5T>C
ENST00000583850.5:n.381-9T>C
ENST00000583858.5:c.537-5T>C
ENST00000585203.6:n.797-5T>C
NM_000018.3:c.1606-5T>C NP_000009.1:n.1606-5T>C
NM_001033859.2:c.1540-5T>C NP_001029031.1:n.1540-5T>C
NM_001270447.1:c.1675-5T>C NP_001257376.1:n.1675-5T>C
NM_001270448.1:c.1378-5T>C NP_001257377.1:n.1378-5T>C
XM_006721516.2:c.1606-5T>C XP_006721579.2:n.1606-5T>C
XM_011523829.1:c.1508-9T>C XP_011522131.1:n.1508-9T>C
XM_011523830.1:c.1508-9T>C XP_011522132.1:n.1508-9T>C
XR_934021.1:n.1713-9T>C
XR_934022.1:n.1615-5T>C
XR_934023.1:n.1615-5T>C
XM_006721516.3:c.1606-5T>C XP_006721579.2:n.1606-5T>C
XM_011523829.2:c.1508-9T>C XP_011522131.1:n.1508-9T>C
XM_011523830.2:c.1508-9T>C XP_011522132.1:n.1508-9T>C
XM_024450741.1:c.1589T>C XP_024306509.1:p.Leu530Pro
XR_934021.2:n.1665-9T>C
XR_934022.2:n.1567-5T>C
XR_934023.2:n.1567-5T>C
NM_000018.4:c.1606-5T>C MANE Select NP_000009.1:n.1606-5T>C
NM_001033859.3:c.1540-5T>C NP_001029031.1:n.1540-5T>C
NM_001270447.2:c.1675-5T>C NP_001257376.1:n.1675-5T>C
NM_001270448.2:c.1378-5T>C NP_001257377.1:n.1378-5T>C