Canonical Allele Identifier: CA2245711048
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223428G= , CM000679.2:g.7223428G= GRCh38
NC_000017.10:g.7126747G= , CM000679.1:g.7126747G= GRCh37
NC_000017.9:g.7067471G= NCBI36
NG_007975.1:g.8595G=
NG_008391.2:g.1623C=
NG_033038.1:g.16117C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1182+191G= MANE Select ENSP00000349297.5:n.1182+191G=
ENST00000322910.9:c.*1137+191G= ENSP00000325395.5:n.*1137+191G=
ENST00000350303.9:c.1116+191G= ENSP00000344152.5:n.1116+191G=
ENST00000356839.9:c.1182+191G= ENSP00000349297.5:n.1182+191G=
ENST00000542255.6:c.40+191G=
ENST00000543245.6:c.1251+191G= ENSP00000438689.2:n.1251+191G=
ENST00000578579.2:n.138G=
ENST00000578824.5:n.598+191G=
ENST00000579425.5:n.206+191G=
ENST00000579546.1:c.19+191G=
ENST00000583858.5:c.211+191G=
ENST00000585203.6:n.390+191G=
NM_000018.3:c.1182+191G= NP_000009.1:n.1182+191G=
NM_001033859.2:c.1116+191G= NP_001029031.1:n.1116+191G=
NM_001270447.1:c.1251+191G= NP_001257376.1:n.1251+191G=
NM_001270448.1:c.954+191G= NP_001257377.1:n.954+191G=
XM_006721516.2:c.1182+191G= XP_006721579.2:n.1182+191G=
XM_011523829.1:c.1182+191G= XP_011522131.1:n.1182+191G=
XM_011523830.1:c.1182+191G= XP_011522132.1:n.1182+191G=
XR_934021.1:n.1289+191G=
XR_934022.1:n.1289+191G=
XR_934023.1:n.1289+191G=
XM_006721516.3:c.1182+191G= XP_006721579.2:n.1182+191G=
XM_011523829.2:c.1182+191G= XP_011522131.1:n.1182+191G=
XM_011523830.2:c.1182+191G= XP_011522132.1:n.1182+191G=
XM_024450741.1:c.1182+191G= XP_024306509.1:n.1182+191G=
XR_934021.2:n.1241+191G=
XR_934022.2:n.1241+191G=
XR_934023.2:n.1241+191G=
NM_000018.4:c.1182+191G= MANE Select NP_000009.1:n.1182+191G=
NM_001033859.3:c.1116+191G= NP_001029031.1:n.1116+191G=
NM_001270447.2:c.1251+191G= NP_001257376.1:n.1251+191G=
NM_001270448.2:c.954+191G= NP_001257377.1:n.954+191G=