Canonical Allele Identifier: CA397724705
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223718A>C , CM000679.2:g.7223718A>C GRCh38
NC_000017.10:g.7127037A>C , CM000679.1:g.7127037A>C GRCh37
NC_000017.9:g.7067761A>C NCBI36
NG_007975.1:g.8885A>C
NG_008391.2:g.1333T>G
NG_033038.1:g.15827T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1257A>C MANE Select ENSP00000349297.5:p.Lys419Asn
ENST00000322910.9:c.*1212A>C ENSP00000325395.5:n.*1212A>C
ENST00000350303.9:c.1191A>C ENSP00000344152.5:p.Lys397Asn
ENST00000356839.9:c.1257A>C ENSP00000349297.5:p.Lys419Asn
ENST00000542255.6:c.115A>C
ENST00000543245.6:c.1326A>C ENSP00000438689.2:p.Lys442Asn
ENST00000578579.2:n.428A>C
ENST00000578711.1:n.214A>C
ENST00000578824.5:n.673A>C
ENST00000579425.5:n.281A>C
ENST00000579546.1:c.94A>C
ENST00000583850.5:n.32A>C
ENST00000583858.5:c.286A>C
ENST00000585203.6:n.465A>C
NM_000018.3:c.1257A>C NP_000009.1:p.Lys419Asn
NM_001033859.2:c.1191A>C NP_001029031.1:p.Lys397Asn
NM_001270447.1:c.1326A>C NP_001257376.1:p.Lys442Asn
NM_001270448.1:c.1029A>C NP_001257377.1:p.Lys343Asn
XM_006721516.2:c.1257A>C XP_006721579.2:p.Lys419Asn
XM_011523829.1:c.1257A>C XP_011522131.1:p.Lys419Asn
XM_011523830.1:c.1257A>C XP_011522132.1:p.Lys419Asn
XR_934021.1:n.1364A>C
XR_934022.1:n.1364A>C
XR_934023.1:n.1364A>C
XM_006721516.3:c.1257A>C XP_006721579.2:p.Lys419Asn
XM_011523829.2:c.1257A>C XP_011522131.1:p.Lys419Asn
XM_011523830.2:c.1257A>C XP_011522132.1:p.Lys419Asn
XM_024450741.1:c.1257A>C XP_024306509.1:p.Lys419Asn
XR_934021.2:n.1316A>C
XR_934022.2:n.1316A>C
XR_934023.2:n.1316A>C
NM_000018.4:c.1257A>C MANE Select NP_000009.1:p.Lys419Asn
NM_001033859.3:c.1191A>C NP_001029031.1:p.Lys397Asn
NM_001270447.2:c.1326A>C NP_001257376.1:p.Lys442Asn
NM_001270448.2:c.1029A>C NP_001257377.1:p.Lys343Asn