Canonical Allele Identifier: CA2245713945
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224379C= , CM000679.2:g.7224379C= GRCh38
NC_000017.10:g.7127698C= , CM000679.1:g.7127698C= GRCh37
NC_000017.9:g.7068422C= NCBI36
NG_007975.1:g.9546C=
NG_008391.2:g.672G=
NG_033038.1:g.15166G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1591C= MANE Select ENSP00000349297.5:p.Arg531=
ENST00000322910.9:c.*1546C= ENSP00000325395.5:n.*1546C=
ENST00000350303.9:c.1525C= ENSP00000344152.5:p.Arg509=
ENST00000356839.9:c.1591C= ENSP00000349297.5:p.Arg531=
ENST00000542255.6:c.449C=
ENST00000543245.6:c.1660C= ENSP00000438689.2:p.Arg554=
ENST00000578319.5:n.86C=
ENST00000578711.1:n.875C=
ENST00000578809.5:n.163C=
ENST00000579391.1:n.199C=
ENST00000579425.5:n.707C=
ENST00000579546.1:c.330C=
ENST00000579894.5:n.378C=
ENST00000582450.1:n.99C=
ENST00000583074.5:n.212C=
ENST00000583850.5:n.366C=
ENST00000583858.5:c.522C=
ENST00000585203.6:n.782C=
NM_000018.3:c.1591C= NP_000009.1:p.Arg531=
NM_001033859.2:c.1525C= NP_001029031.1:p.Arg509=
NM_001270447.1:c.1660C= NP_001257376.1:p.Arg554=
NM_001270448.1:c.1363C= NP_001257377.1:p.Arg455=
XM_006721516.2:c.1591C= XP_006721579.2:p.Arg531=
XM_011523829.1:c.1493C= XP_011522131.1:p.Ser498=
XM_011523830.1:c.1493C= XP_011522132.1:p.Ser498=
XR_934021.1:n.1698C=
XR_934022.1:n.1600C=
XR_934023.1:n.1600C=
XM_006721516.3:c.1591C= XP_006721579.2:p.Arg531=
XM_011523829.2:c.1493C= XP_011522131.1:p.Ser498=
XM_011523830.2:c.1493C= XP_011522132.1:p.Ser498=
XM_024450741.1:c.1493C= XP_024306509.1:p.Ser498=
XR_934021.2:n.1650C=
XR_934022.2:n.1552C=
XR_934023.2:n.1552C=
NM_000018.4:c.1591C= MANE Select NP_000009.1:p.Arg531=
NM_001033859.3:c.1525C= NP_001029031.1:p.Arg509=
NM_001270447.2:c.1660C= NP_001257376.1:p.Arg554=
NM_001270448.2:c.1363C= NP_001257377.1:p.Arg455=