Canonical Allele Identifier: CA2245711042
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223417C= , CM000679.2:g.7223417C= GRCh38
NC_000017.10:g.7126736C= , CM000679.1:g.7126736C= GRCh37
NC_000017.9:g.7067460C= NCBI36
NG_007975.1:g.8584C=
NG_008391.2:g.1634G=
NG_033038.1:g.16128G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1182+180C= MANE Select ENSP00000349297.5:n.1182+180C=
ENST00000322910.9:c.*1137+180C= ENSP00000325395.5:n.*1137+180C=
ENST00000350303.9:c.1116+180C= ENSP00000344152.5:n.1116+180C=
ENST00000356839.9:c.1182+180C= ENSP00000349297.5:n.1182+180C=
ENST00000542255.6:c.40+180C=
ENST00000543245.6:c.1251+180C= ENSP00000438689.2:n.1251+180C=
ENST00000578579.2:n.132-5C=
ENST00000578824.5:n.598+180C=
ENST00000579425.5:n.206+180C=
ENST00000579546.1:c.19+180C=
ENST00000583858.5:c.211+180C=
ENST00000585203.6:n.390+180C=
NM_000018.3:c.1182+180C= NP_000009.1:n.1182+180C=
NM_001033859.2:c.1116+180C= NP_001029031.1:n.1116+180C=
NM_001270447.1:c.1251+180C= NP_001257376.1:n.1251+180C=
NM_001270448.1:c.954+180C= NP_001257377.1:n.954+180C=
XM_006721516.2:c.1182+180C= XP_006721579.2:n.1182+180C=
XM_011523829.1:c.1182+180C= XP_011522131.1:n.1182+180C=
XM_011523830.1:c.1182+180C= XP_011522132.1:n.1182+180C=
XR_934021.1:n.1289+180C=
XR_934022.1:n.1289+180C=
XR_934023.1:n.1289+180C=
XM_006721516.3:c.1182+180C= XP_006721579.2:n.1182+180C=
XM_011523829.2:c.1182+180C= XP_011522131.1:n.1182+180C=
XM_011523830.2:c.1182+180C= XP_011522132.1:n.1182+180C=
XM_024450741.1:c.1182+180C= XP_024306509.1:n.1182+180C=
XR_934021.2:n.1241+180C=
XR_934022.2:n.1241+180C=
XR_934023.2:n.1241+180C=
NM_000018.4:c.1182+180C= MANE Select NP_000009.1:n.1182+180C=
NM_001033859.3:c.1116+180C= NP_001029031.1:n.1116+180C=
NM_001270447.2:c.1251+180C= NP_001257376.1:n.1251+180C=
NM_001270448.2:c.954+180C= NP_001257377.1:n.954+180C=