Canonical Allele Identifier: CA397725660
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224649G>C , CM000679.2:g.7224649G>C GRCh38
NC_000017.10:g.7127968G>C , CM000679.1:g.7127968G>C GRCh37
NC_000017.9:g.7068692G>C NCBI36
NG_007975.1:g.9816G>C
NG_008391.2:g.402C>G
NG_033038.1:g.14896C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1686G>C MANE Select ENSP00000349297.5:p.Gln562His
ENST00000322910.9:c.*1641G>C ENSP00000325395.5:n.*1641G>C
ENST00000350303.9:c.1620G>C ENSP00000344152.5:p.Gln540His
ENST00000356839.9:c.1686G>C ENSP00000349297.5:p.Gln562His
ENST00000542255.6:c.537-66G>C
ENST00000543245.6:c.1755G>C ENSP00000438689.2:p.Gln585His
ENST00000578033.1:n.17G>C
ENST00000578319.5:n.267G>C
ENST00000578711.1:n.1145G>C
ENST00000578809.5:n.258G>C
ENST00000579425.5:n.802G>C
ENST00000579546.1:c.421G>C
ENST00000582450.1:n.283G>C
ENST00000583074.5:n.300-66G>C
ENST00000583848.5:c.65-13G>C ENSP00000466487.1:n.65-13G>C
ENST00000583850.5:n.457G>C
ENST00000583858.5:c.617G>C
ENST00000585203.6:n.877G>C
NM_000018.3:c.1686G>C NP_000009.1:p.Gln562His
NM_001033859.2:c.1620G>C NP_001029031.1:p.Gln540His
NM_001270447.1:c.1755G>C NP_001257376.1:p.Gln585His
NM_001270448.1:c.1458G>C NP_001257377.1:p.Gln486His
XM_006721516.2:c.1679-66G>C XP_006721579.2:n.1679-66G>C
XM_011523829.1:c.1577-66G>C XP_011522131.1:n.1577-66G>C
XM_011523830.1:c.1584G>C XP_011522132.1:p.Gln528His
XR_934021.1:n.1789G>C
XR_934022.1:n.1695G>C
XR_934023.1:n.1688-66G>C
XM_006721516.3:c.1679-66G>C XP_006721579.2:n.1679-66G>C
XM_011523829.2:c.1577-66G>C XP_011522131.1:n.1577-66G>C
XM_011523830.2:c.1584G>C XP_011522132.1:p.Gln528His
XM_024450741.1:c.1674G>C XP_024306509.1:p.Gln558His
XR_934021.2:n.1741G>C
XR_934022.2:n.1647G>C
XR_934023.2:n.1640-66G>C
NM_000018.4:c.1686G>C MANE Select NP_000009.1:p.Gln562His
NM_001033859.3:c.1620G>C NP_001029031.1:p.Gln540His
NM_001270447.2:c.1755G>C NP_001257376.1:p.Gln585His
NM_001270448.2:c.1458G>C NP_001257377.1:p.Gln486His