Canonical Allele Identifier: CA8338178
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 555677
ClinVar RCV Id: RCV000671541
dbSNP Id: rs372357967
gnomAD v2: 17-7127757-C-T
gnomAD v3: 17-7224438-C-T
gnomAD v4: 17-7224438-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224438C>T , CM000679.2:g.7224438C>T GRCh38
NC_000017.10:g.7127757C>T , CM000679.1:g.7127757C>T GRCh37
NC_000017.9:g.7068481C>T NCBI36
NG_007975.1:g.9605C>T
NG_008391.2:g.613G>A
NG_033038.1:g.15107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1606-42C>T MANE Select ENSP00000349297.5:n.1606-42C>T
ENST00000322910.9:c.*1561-42C>T ENSP00000325395.5:n.*1561-42C>T
ENST00000350303.9:c.1540-42C>T ENSP00000344152.5:n.1540-42C>T
ENST00000356839.9:c.1606-42C>T ENSP00000349297.5:n.1606-42C>T
ENST00000542255.6:c.464-42C>T
ENST00000543245.6:c.1675-42C>T ENSP00000438689.2:n.1675-42C>T
ENST00000578319.5:n.145C>T
ENST00000578711.1:n.934C>T
ENST00000578809.5:n.178-42C>T
ENST00000579391.1:n.214-46C>T
ENST00000579425.5:n.722-42C>T
ENST00000579546.1:c.345-46C>T
ENST00000579894.5:n.393-42C>T
ENST00000582450.1:n.114-42C>T
ENST00000583074.5:n.227-42C>T
ENST00000583850.5:n.381-46C>T
ENST00000583858.5:c.537-42C>T
ENST00000585203.6:n.797-42C>T
NM_000018.3:c.1606-42C>T NP_000009.1:n.1606-42C>T
NM_001033859.2:c.1540-42C>T NP_001029031.1:n.1540-42C>T
NM_001270447.1:c.1675-42C>T NP_001257376.1:n.1675-42C>T
NM_001270448.1:c.1378-42C>T NP_001257377.1:n.1378-42C>T
XM_006721516.2:c.1606-42C>T XP_006721579.2:n.1606-42C>T
XM_011523829.1:c.1508-46C>T XP_011522131.1:n.1508-46C>T
XM_011523830.1:c.1508-46C>T XP_011522132.1:n.1508-46C>T
XR_934021.1:n.1713-46C>T
XR_934022.1:n.1615-42C>T
XR_934023.1:n.1615-42C>T
XM_006721516.3:c.1606-42C>T XP_006721579.2:n.1606-42C>T
XM_011523829.2:c.1508-46C>T XP_011522131.1:n.1508-46C>T
XM_011523830.2:c.1508-46C>T XP_011522132.1:n.1508-46C>T
XM_024450741.1:c.1552C>T XP_024306509.1:p.Pro518Ser
XR_934021.2:n.1665-46C>T
XR_934022.2:n.1567-42C>T
XR_934023.2:n.1567-42C>T
NM_000018.4:c.1606-42C>T MANE Select NP_000009.1:n.1606-42C>T
NM_001033859.3:c.1540-42C>T NP_001029031.1:n.1540-42C>T
NM_001270447.2:c.1675-42C>T NP_001257376.1:n.1675-42C>T
NM_001270448.2:c.1378-42C>T NP_001257377.1:n.1378-42C>T