Canonical Allele Identifier: CA397725511
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224498C>G , CM000679.2:g.7224498C>G GRCh38
NC_000017.10:g.7127817C>G , CM000679.1:g.7127817C>G GRCh37
NC_000017.9:g.7068541C>G NCBI36
NG_007975.1:g.9665C>G
NG_008391.2:g.553G>C
NG_033038.1:g.15047G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1624C>G MANE Select ENSP00000349297.5:p.Gln542Glu
ENST00000322910.9:c.*1579C>G ENSP00000325395.5:n.*1579C>G
ENST00000350303.9:c.1558C>G ENSP00000344152.5:p.Gln520Glu
ENST00000356839.9:c.1624C>G ENSP00000349297.5:p.Gln542Glu
ENST00000542255.6:c.482C>G
ENST00000543245.6:c.1693C>G ENSP00000438689.2:p.Gln565Glu
ENST00000578319.5:n.205C>G
ENST00000578711.1:n.994C>G
ENST00000578809.5:n.196C>G
ENST00000579391.1:n.228C>G
ENST00000579425.5:n.740C>G
ENST00000579546.1:c.359C>G
ENST00000579894.5:n.411C>G
ENST00000582450.1:n.132C>G
ENST00000583074.5:n.245C>G
ENST00000583848.5:c.10C>G ENSP00000466487.1:p.Gln4Glu
ENST00000583850.5:n.395C>G
ENST00000583858.5:c.555C>G
ENST00000585203.6:n.815C>G
NM_000018.3:c.1624C>G NP_000009.1:p.Gln542Glu
NM_001033859.2:c.1558C>G NP_001029031.1:p.Gln520Glu
NM_001270447.1:c.1693C>G NP_001257376.1:p.Gln565Glu
NM_001270448.1:c.1396C>G NP_001257377.1:p.Gln466Glu
XM_006721516.2:c.1624C>G XP_006721579.2:p.Gln542Glu
XM_011523829.1:c.1522C>G XP_011522131.1:p.Gln508Glu
XM_011523830.1:c.1522C>G XP_011522132.1:p.Gln508Glu
XR_934021.1:n.1727C>G
XR_934022.1:n.1633C>G
XR_934023.1:n.1633C>G
XM_006721516.3:c.1624C>G XP_006721579.2:p.Gln542Glu
XM_011523829.2:c.1522C>G XP_011522131.1:p.Gln508Glu
XM_011523830.2:c.1522C>G XP_011522132.1:p.Gln508Glu
XM_024450741.1:c.1612C>G XP_024306509.1:p.Gln538Glu
XR_934021.2:n.1679C>G
XR_934022.2:n.1585C>G
XR_934023.2:n.1585C>G
NM_000018.4:c.1624C>G MANE Select NP_000009.1:p.Gln542Glu
NM_001033859.3:c.1558C>G NP_001029031.1:p.Gln520Glu
NM_001270447.2:c.1693C>G NP_001257376.1:p.Gln565Glu
NM_001270448.2:c.1396C>G NP_001257377.1:p.Gln466Glu