Canonical Allele Identifier: CA2245700274
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221615T= , CM000679.2:g.7221615T= GRCh38
NC_000017.10:g.7124934T= , CM000679.1:g.7124934T= GRCh37
NC_000017.9:g.7065658T= NCBI36
NG_007975.1:g.6782T=
NG_008391.2:g.3436A=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.555T= MANE Select ENSP00000349297.5:p.Gly185=
ENST00000322910.9:c.*510T= ENSP00000325395.5:n.*510T=
ENST00000350303.9:c.489T= ENSP00000344152.5:p.Gly163=
ENST00000356839.9:c.555T= ENSP00000349297.5:p.Gly185=
ENST00000543245.6:c.624T= ENSP00000438689.2:p.Gly208=
ENST00000577191.5:n.632T=
ENST00000577433.5:n.763T=
ENST00000577857.5:n.371T=
ENST00000579286.5:n.736T=
ENST00000579886.2:c.393T= ENSP00000463246.1:p.Gly131=
ENST00000580365.1:n.286T=
ENST00000581378.5:c.273T=
ENST00000581562.5:n.525-337T=
ENST00000582166.1:n.536T=
ENST00000583312.5:c.555T= ENSP00000467920.1:p.Gly185=
ENST00000583760.1:n.337T=
NM_000018.3:c.555T= NP_000009.1:p.Gly185=
NM_001033859.2:c.489T= NP_001029031.1:p.Gly163=
NM_001270447.1:c.624T= NP_001257376.1:p.Gly208=
NM_001270448.1:c.327T= NP_001257377.1:p.Gly109=
XM_006721516.2:c.555T= XP_006721579.2:p.Gly185=
XM_011523829.1:c.555T= XP_011522131.1:p.Gly185=
XM_011523830.1:c.555T= XP_011522132.1:p.Gly185=
XR_934021.1:n.662T=
XR_934022.1:n.662T=
XR_934023.1:n.662T=
XM_006721516.3:c.555T= XP_006721579.2:p.Gly185=
XM_011523829.2:c.555T= XP_011522131.1:p.Gly185=
XM_011523830.2:c.555T= XP_011522132.1:p.Gly185=
XM_024450741.1:c.555T= XP_024306509.1:p.Gly185=
XR_934021.2:n.614T=
XR_934022.2:n.614T=
XR_934023.2:n.614T=
NM_000018.4:c.555T= MANE Select NP_000009.1:p.Gly185=
NM_001033859.3:c.489T= NP_001029031.1:p.Gly163=
NM_001270447.2:c.624T= NP_001257376.1:p.Gly208=
NM_001270448.2:c.327T= NP_001257377.1:p.Gly109=