Canonical Allele Identifier: CA2245716734
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225137C= , CM000679.2:g.7225137C= GRCh38
NC_000017.10:g.7128456C= , CM000679.1:g.7128456C= GRCh37
NC_000017.9:g.7069180C= NCBI36
NG_007975.1:g.10304C=
NG_033038.1:g.14408G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.*40C= MANE Select ENSP00000349297.5:n.*40C=
ENST00000322910.9:c.*1963C= ENSP00000325395.5:n.*1963C=
ENST00000350303.9:c.*40C= ENSP00000344152.5:n.*40C=
ENST00000356839.9:c.*40C= ENSP00000349297.5:n.*40C=
ENST00000542255.6:c.887C=
ENST00000543245.6:c.*40C= ENSP00000438689.2:n.*40C=
ENST00000578033.1:n.433C=
ENST00000578319.5:n.589C=
ENST00000578711.1:n.1633C=
ENST00000578809.5:n.580C=
ENST00000579425.5:n.1124C=
ENST00000583848.5:c.374C= ENSP00000466487.1:n.374C=
ENST00000583850.5:n.779C=
ENST00000583858.5:c.939C=
NM_000018.3:c.*40C= NP_000009.1:n.*40C=
NM_001033859.2:c.*40C= NP_001029031.1:n.*40C=
NM_001270447.1:c.*40C= NP_001257376.1:n.*40C=
NM_001270448.1:c.*40C= NP_001257377.1:n.*40C=
XM_006721516.2:c.*40C= XP_006721579.2:n.*40C=
XM_011523829.1:c.*40C= XP_011522131.1:n.*40C=
XM_011523830.1:c.*40C= XP_011522132.1:n.*40C=
XR_934021.1:n.2111C=
XR_934022.1:n.2017C=
XR_934023.1:n.2038C=
XM_006721516.3:c.*40C= XP_006721579.2:n.*40C=
XM_011523829.2:c.*40C= XP_011522131.1:n.*40C=
XM_011523830.2:c.*40C= XP_011522132.1:n.*40C=
XM_024450741.1:c.*40C= XP_024306509.1:n.*40C=
XR_934021.2:n.2063C=
XR_934022.2:n.1969C=
XR_934023.2:n.1990C=
NM_000018.4:c.*40C= MANE Select NP_000009.1:n.*40C=
NM_001033859.3:c.*40C= NP_001029031.1:n.*40C=
NM_001270447.2:c.*40C= NP_001257376.1:n.*40C=
NM_001270448.2:c.*40C= NP_001257377.1:n.*40C=