Canonical Allele Identifier: CA16041876
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 371586
ClinVar RCV Id: RCV000411804
dbSNP Id: rs1057517386

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224479G>A , CM000679.2:g.7224479G>A GRCh38
NC_000017.10:g.7127798G>A , CM000679.1:g.7127798G>A GRCh37
NC_000017.9:g.7068522G>A NCBI36
NG_007975.1:g.9646G>A
NG_008391.2:g.572C>T
NG_033038.1:g.15066C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1606-1G>A MANE Select ENSP00000349297.5:n.1606-1G>A
ENST00000322910.9:c.*1561-1G>A ENSP00000325395.5:n.*1561-1G>A
ENST00000350303.9:c.1540-1G>A ENSP00000344152.5:n.1540-1G>A
ENST00000356839.9:c.1606-1G>A ENSP00000349297.5:n.1606-1G>A
ENST00000542255.6:c.464-1G>A
ENST00000543245.6:c.1675-1G>A ENSP00000438689.2:n.1675-1G>A
ENST00000578319.5:n.186G>A
ENST00000578711.1:n.975G>A
ENST00000578809.5:n.178-1G>A
ENST00000579391.1:n.214-5G>A
ENST00000579425.5:n.722-1G>A
ENST00000579546.1:c.345-5G>A
ENST00000579894.5:n.393-1G>A
ENST00000582450.1:n.114-1G>A
ENST00000583074.5:n.227-1G>A
ENST00000583850.5:n.381-5G>A
ENST00000583858.5:c.537-1G>A
ENST00000585203.6:n.797-1G>A
NM_000018.3:c.1606-1G>A NP_000009.1:n.1606-1G>A
NM_001033859.2:c.1540-1G>A NP_001029031.1:n.1540-1G>A
NM_001270447.1:c.1675-1G>A NP_001257376.1:n.1675-1G>A
NM_001270448.1:c.1378-1G>A NP_001257377.1:n.1378-1G>A
XM_006721516.2:c.1606-1G>A XP_006721579.2:n.1606-1G>A
XM_011523829.1:c.1508-5G>A XP_011522131.1:n.1508-5G>A
XM_011523830.1:c.1508-5G>A XP_011522132.1:n.1508-5G>A
XR_934021.1:n.1713-5G>A
XR_934022.1:n.1615-1G>A
XR_934023.1:n.1615-1G>A
XM_006721516.3:c.1606-1G>A XP_006721579.2:n.1606-1G>A
XM_011523829.2:c.1508-5G>A XP_011522131.1:n.1508-5G>A
XM_011523830.2:c.1508-5G>A XP_011522132.1:n.1508-5G>A
XM_024450741.1:c.1593G>A XP_024306509.1:p.Lys531=
XR_934021.2:n.1665-5G>A
XR_934022.2:n.1567-1G>A
XR_934023.2:n.1567-1G>A
NM_000018.4:c.1606-1G>A MANE Select NP_000009.1:n.1606-1G>A
NM_001033859.3:c.1540-1G>A NP_001029031.1:n.1540-1G>A
NM_001270447.2:c.1675-1G>A NP_001257376.1:n.1675-1G>A
NM_001270448.2:c.1378-1G>A NP_001257377.1:n.1378-1G>A