Canonical Allele Identifier: CA397725364
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224341G>C , CM000679.2:g.7224341G>C GRCh38
NC_000017.10:g.7127660G>C , CM000679.1:g.7127660G>C GRCh37
NC_000017.9:g.7068384G>C NCBI36
NG_007975.1:g.9508G>C
NG_008391.2:g.710C>G
NG_033038.1:g.15204C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1553G>C MANE Select ENSP00000349297.5:p.Gly518Ala
ENST00000322910.9:c.*1508G>C ENSP00000325395.5:n.*1508G>C
ENST00000350303.9:c.1487G>C ENSP00000344152.5:p.Gly496Ala
ENST00000356839.9:c.1553G>C ENSP00000349297.5:p.Gly518Ala
ENST00000542255.6:c.411G>C
ENST00000543245.6:c.1622G>C ENSP00000438689.2:p.Gly541Ala
ENST00000578319.5:n.48G>C
ENST00000578711.1:n.837G>C
ENST00000578809.5:n.125G>C
ENST00000579391.1:n.161G>C
ENST00000579425.5:n.669G>C
ENST00000579546.1:c.292G>C
ENST00000579894.5:n.340G>C
ENST00000582450.1:n.61G>C
ENST00000583074.5:n.174G>C
ENST00000583850.5:n.328G>C
ENST00000583858.5:c.484G>C
ENST00000585203.6:n.744G>C
NM_000018.3:c.1553G>C NP_000009.1:p.Gly518Ala
NM_001033859.2:c.1487G>C NP_001029031.1:p.Gly496Ala
NM_001270447.1:c.1622G>C NP_001257376.1:p.Gly541Ala
NM_001270448.1:c.1325G>C NP_001257377.1:p.Gly442Ala
XM_006721516.2:c.1553G>C XP_006721579.2:p.Gly518Ala
XM_011523829.1:c.1455G>C XP_011522131.1:p.Arg485=
XM_011523830.1:c.1455G>C XP_011522132.1:p.Arg485=
XR_934021.1:n.1660G>C
XR_934022.1:n.1562G>C
XR_934023.1:n.1562G>C
XM_006721516.3:c.1553G>C XP_006721579.2:p.Gly518Ala
XM_011523829.2:c.1455G>C XP_011522131.1:p.Arg485=
XM_011523830.2:c.1455G>C XP_011522132.1:p.Arg485=
XM_024450741.1:c.1455G>C XP_024306509.1:p.Arg485=
XR_934021.2:n.1612G>C
XR_934022.2:n.1514G>C
XR_934023.2:n.1514G>C
NM_000018.4:c.1553G>C MANE Select NP_000009.1:p.Gly518Ala
NM_001033859.3:c.1487G>C NP_001029031.1:p.Gly496Ala
NM_001270447.2:c.1622G>C NP_001257376.1:p.Gly541Ala
NM_001270448.2:c.1325G>C NP_001257377.1:p.Gly442Ala