Canonical Allele Identifier: CA397724605
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223672T>C , CM000679.2:g.7223672T>C GRCh38
NC_000017.10:g.7126991T>C , CM000679.1:g.7126991T>C GRCh37
NC_000017.9:g.7067715T>C NCBI36
NG_007975.1:g.8839T>C
NG_008391.2:g.1379A>G
NG_033038.1:g.15873A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1211T>C MANE Select ENSP00000349297.5:p.Met404Thr
ENST00000322910.9:c.*1166T>C ENSP00000325395.5:n.*1166T>C
ENST00000350303.9:c.1145T>C ENSP00000344152.5:p.Met382Thr
ENST00000356839.9:c.1211T>C ENSP00000349297.5:p.Met404Thr
ENST00000542255.6:c.69T>C
ENST00000543245.6:c.1280T>C ENSP00000438689.2:p.Met427Thr
ENST00000578579.2:n.382T>C
ENST00000578711.1:n.168T>C
ENST00000578824.5:n.627T>C
ENST00000579425.5:n.235T>C
ENST00000579546.1:c.48T>C
ENST00000583858.5:c.240T>C
ENST00000585203.6:n.419T>C
NM_000018.3:c.1211T>C NP_000009.1:p.Met404Thr
NM_001033859.2:c.1145T>C NP_001029031.1:p.Met382Thr
NM_001270447.1:c.1280T>C NP_001257376.1:p.Met427Thr
NM_001270448.1:c.983T>C NP_001257377.1:p.Met328Thr
XM_006721516.2:c.1211T>C XP_006721579.2:p.Met404Thr
XM_011523829.1:c.1211T>C XP_011522131.1:p.Met404Thr
XM_011523830.1:c.1211T>C XP_011522132.1:p.Met404Thr
XR_934021.1:n.1318T>C
XR_934022.1:n.1318T>C
XR_934023.1:n.1318T>C
XM_006721516.3:c.1211T>C XP_006721579.2:p.Met404Thr
XM_011523829.2:c.1211T>C XP_011522131.1:p.Met404Thr
XM_011523830.2:c.1211T>C XP_011522132.1:p.Met404Thr
XM_024450741.1:c.1211T>C XP_024306509.1:p.Met404Thr
XR_934021.2:n.1270T>C
XR_934022.2:n.1270T>C
XR_934023.2:n.1270T>C
NM_000018.4:c.1211T>C MANE Select NP_000009.1:p.Met404Thr
NM_001033859.3:c.1145T>C NP_001029031.1:p.Met382Thr
NM_001270447.2:c.1280T>C NP_001257376.1:p.Met427Thr
NM_001270448.2:c.983T>C NP_001257377.1:p.Met328Thr