Canonical Allele Identifier: CA2245700961
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222036C= , CM000679.2:g.7222036C= GRCh38
NC_000017.10:g.7125355C= , CM000679.1:g.7125355C= GRCh37
NC_000017.9:g.7066079C= NCBI36
NG_007975.1:g.7203C=
NG_008391.2:g.3015G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.707C= MANE Select ENSP00000349297.5:p.Pro236=
ENST00000322910.9:c.*662C= ENSP00000325395.5:n.*662C=
ENST00000350303.9:c.641C= ENSP00000344152.5:p.Pro214=
ENST00000356839.9:c.707C= ENSP00000349297.5:p.Pro236=
ENST00000543245.6:c.776C= ENSP00000438689.2:p.Pro259=
ENST00000577191.5:n.784C=
ENST00000577857.5:n.523C=
ENST00000579286.5:n.888C=
ENST00000580365.1:n.438C=
ENST00000581378.5:c.425C=
ENST00000582379.1:n.91C=
ENST00000583760.1:n.489C=
NM_000018.3:c.707C= NP_000009.1:p.Pro236=
NM_001033859.2:c.641C= NP_001029031.1:p.Pro214=
NM_001270447.1:c.776C= NP_001257376.1:p.Pro259=
NM_001270448.1:c.479C= NP_001257377.1:p.Pro160=
XM_006721516.2:c.707C= XP_006721579.2:p.Pro236=
XM_011523829.1:c.707C= XP_011522131.1:p.Pro236=
XM_011523830.1:c.707C= XP_011522132.1:p.Pro236=
XR_934021.1:n.814C=
XR_934022.1:n.814C=
XR_934023.1:n.814C=
XM_006721516.3:c.707C= XP_006721579.2:p.Pro236=
XM_011523829.2:c.707C= XP_011522131.1:p.Pro236=
XM_011523830.2:c.707C= XP_011522132.1:p.Pro236=
XM_024450741.1:c.707C= XP_024306509.1:p.Pro236=
XR_934021.2:n.766C=
XR_934022.2:n.766C=
XR_934023.2:n.766C=
NM_000018.4:c.707C= MANE Select NP_000009.1:p.Pro236=
NM_001033859.3:c.641C= NP_001029031.1:p.Pro214=
NM_001270447.2:c.776C= NP_001257376.1:p.Pro259=
NM_001270448.2:c.479C= NP_001257377.1:p.Pro160=