Canonical Allele Identifier: CA2245700799
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221966G= , CM000679.2:g.7221966G= GRCh38
NC_000017.10:g.7125285G= , CM000679.1:g.7125285G= GRCh37
NC_000017.9:g.7066009G= NCBI36
NG_007975.1:g.7133G=
NG_008391.2:g.3085C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.637G= MANE Select ENSP00000349297.5:p.Ala213=
ENST00000322910.9:c.*592G= ENSP00000325395.5:n.*592G=
ENST00000350303.9:c.571G= ENSP00000344152.5:p.Ala191=
ENST00000356839.9:c.637G= ENSP00000349297.5:p.Ala213=
ENST00000543245.6:c.706G= ENSP00000438689.2:p.Ala236=
ENST00000577191.5:n.714G=
ENST00000577857.5:n.453G=
ENST00000579286.5:n.818G=
ENST00000580365.1:n.368G=
ENST00000581378.5:c.355G=
ENST00000581562.5:n.539G=
ENST00000582379.1:n.21G=
ENST00000583312.5:c.652G= ENSP00000467920.1:p.Ala218=
ENST00000583760.1:n.419G=
NM_000018.3:c.637G= NP_000009.1:p.Ala213=
NM_001033859.2:c.571G= NP_001029031.1:p.Ala191=
NM_001270447.1:c.706G= NP_001257376.1:p.Ala236=
NM_001270448.1:c.409G= NP_001257377.1:p.Ala137=
XM_006721516.2:c.637G= XP_006721579.2:p.Ala213=
XM_011523829.1:c.637G= XP_011522131.1:p.Ala213=
XM_011523830.1:c.637G= XP_011522132.1:p.Ala213=
XR_934021.1:n.744G=
XR_934022.1:n.744G=
XR_934023.1:n.744G=
XM_006721516.3:c.637G= XP_006721579.2:p.Ala213=
XM_011523829.2:c.637G= XP_011522131.1:p.Ala213=
XM_011523830.2:c.637G= XP_011522132.1:p.Ala213=
XM_024450741.1:c.637G= XP_024306509.1:p.Ala213=
XR_934021.2:n.696G=
XR_934022.2:n.696G=
XR_934023.2:n.696G=
NM_000018.4:c.637G= MANE Select NP_000009.1:p.Ala213=
NM_001033859.3:c.571G= NP_001029031.1:p.Ala191=
NM_001270447.2:c.706G= NP_001257376.1:p.Ala236=
NM_001270448.2:c.409G= NP_001257377.1:p.Ala137=