Canonical Allele Identifier: CA2245712276
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223921T= , CM000679.2:g.7223921T= GRCh38
NC_000017.10:g.7127240T= , CM000679.1:g.7127240T= GRCh37
NC_000017.9:g.7067964T= NCBI36
NG_007975.1:g.9088T=
NG_008391.2:g.1130A=
NG_033038.1:g.15624A=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1333-47T= MANE Select ENSP00000349297.5:n.1333-47T=
ENST00000322910.9:c.*1288-47T= ENSP00000325395.5:n.*1288-47T=
ENST00000350303.9:c.1267-47T= ENSP00000344152.5:n.1267-47T=
ENST00000356839.9:c.1333-47T= ENSP00000349297.5:n.1333-47T=
ENST00000542255.6:c.191-47T=
ENST00000543245.6:c.1402-47T= ENSP00000438689.2:n.1402-47T=
ENST00000578711.1:n.417T=
ENST00000579425.5:n.402T=
ENST00000579546.1:c.170-47T=
ENST00000583074.5:n.52-47T=
ENST00000583850.5:n.108-47T=
ENST00000583858.5:c.362-47T=
ENST00000585203.6:n.524-47T=
NM_000018.3:c.1333-47T= NP_000009.1:n.1333-47T=
NM_001033859.2:c.1267-47T= NP_001029031.1:n.1267-47T=
NM_001270447.1:c.1402-47T= NP_001257376.1:n.1402-47T=
NM_001270448.1:c.1105-47T= NP_001257377.1:n.1105-47T=
XM_006721516.2:c.1333-47T= XP_006721579.2:n.1333-47T=
XM_011523829.1:c.1333-47T= XP_011522131.1:n.1333-47T=
XM_011523830.1:c.1333-47T= XP_011522132.1:n.1333-47T=
XR_934021.1:n.1440-47T=
XR_934022.1:n.1440-47T=
XR_934023.1:n.1440-47T=
XM_006721516.3:c.1333-47T= XP_006721579.2:n.1333-47T=
XM_011523829.2:c.1333-47T= XP_011522131.1:n.1333-47T=
XM_011523830.2:c.1333-47T= XP_011522132.1:n.1333-47T=
XM_024450741.1:c.1333-47T= XP_024306509.1:n.1333-47T=
XR_934021.2:n.1392-47T=
XR_934022.2:n.1392-47T=
XR_934023.2:n.1392-47T=
NM_000018.4:c.1333-47T= MANE Select NP_000009.1:n.1333-47T=
NM_001033859.3:c.1267-47T= NP_001029031.1:n.1267-47T=
NM_001270447.2:c.1402-47T= NP_001257376.1:n.1402-47T=
NM_001270448.2:c.1105-47T= NP_001257377.1:n.1105-47T=