Canonical Allele Identifier: CA2576148080
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223778T>A , CM000679.2:g.7223778T>A GRCh38
NC_000017.10:g.7127097T>A , CM000679.1:g.7127097T>A GRCh37
NC_000017.9:g.7067821T>A NCBI36
NG_007975.1:g.8945T>A
NG_008391.2:g.1273A>T
NG_033038.1:g.15767A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1270-35T>A MANE Select ENSP00000349297.5:n.1270-35T>A
ENST00000322910.9:c.*1225-35T>A ENSP00000325395.5:n.*1225-35T>A
ENST00000350303.9:c.1204-35T>A ENSP00000344152.5:n.1204-35T>A
ENST00000356839.9:c.1270-35T>A ENSP00000349297.5:n.1270-35T>A
ENST00000542255.6:c.128-35T>A
ENST00000543245.6:c.1339-35T>A ENSP00000438689.2:n.1339-35T>A
ENST00000578579.2:n.441-35T>A
ENST00000578711.1:n.274T>A
ENST00000578824.5:n.686-35T>A
ENST00000579425.5:n.294-35T>A
ENST00000579546.1:c.107-35T>A
ENST00000583850.5:n.45-35T>A
ENST00000583858.5:c.299-35T>A
ENST00000585203.6:n.478-35T>A
NM_000018.3:c.1270-35T>A NP_000009.1:n.1270-35T>A
NM_001033859.2:c.1204-35T>A NP_001029031.1:n.1204-35T>A
NM_001270447.1:c.1339-35T>A NP_001257376.1:n.1339-35T>A
NM_001270448.1:c.1042-35T>A NP_001257377.1:n.1042-35T>A
XM_006721516.2:c.1270-35T>A XP_006721579.2:n.1270-35T>A
XM_011523829.1:c.1270-35T>A XP_011522131.1:n.1270-35T>A
XM_011523830.1:c.1270-35T>A XP_011522132.1:n.1270-35T>A
XR_934021.1:n.1377-35T>A
XR_934022.1:n.1377-35T>A
XR_934023.1:n.1377-35T>A
XM_006721516.3:c.1270-35T>A XP_006721579.2:n.1270-35T>A
XM_011523829.2:c.1270-35T>A XP_011522131.1:n.1270-35T>A
XM_011523830.2:c.1270-35T>A XP_011522132.1:n.1270-35T>A
XM_024450741.1:c.1270-35T>A XP_024306509.1:n.1270-35T>A
XR_934021.2:n.1329-35T>A
XR_934022.2:n.1329-35T>A
XR_934023.2:n.1329-35T>A
NM_000018.4:c.1270-35T>A MANE Select NP_000009.1:n.1270-35T>A
NM_001033859.3:c.1204-35T>A NP_001029031.1:n.1204-35T>A
NM_001270447.2:c.1339-35T>A NP_001257376.1:n.1339-35T>A
NM_001270448.2:c.1042-35T>A NP_001257377.1:n.1042-35T>A