Canonical Allele Identifier: CA2245700236
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221608G= , CM000679.2:g.7221608G= GRCh38
NC_000017.10:g.7124927G= , CM000679.1:g.7124927G= GRCh37
NC_000017.9:g.7065651G= NCBI36
NG_007975.1:g.6775G=
NG_008391.2:g.3443C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.548G= MANE Select ENSP00000349297.5:p.Ser183=
ENST00000322910.9:c.*503G= ENSP00000325395.5:n.*503G=
ENST00000350303.9:c.482G= ENSP00000344152.5:p.Ser161=
ENST00000356839.9:c.548G= ENSP00000349297.5:p.Ser183=
ENST00000543245.6:c.617G= ENSP00000438689.2:p.Ser206=
ENST00000577191.5:n.625G=
ENST00000577433.5:n.756G=
ENST00000577857.5:n.364G=
ENST00000579286.5:n.729G=
ENST00000579886.2:c.386G= ENSP00000463246.1:p.Ser129=
ENST00000580365.1:n.279G=
ENST00000581378.5:c.266G=
ENST00000581562.5:n.525-344G=
ENST00000582166.1:n.529G=
ENST00000583312.5:c.548G= ENSP00000467920.1:p.Ser183=
ENST00000583760.1:n.330G=
NM_000018.3:c.548G= NP_000009.1:p.Ser183=
NM_001033859.2:c.482G= NP_001029031.1:p.Ser161=
NM_001270447.1:c.617G= NP_001257376.1:p.Ser206=
NM_001270448.1:c.320G= NP_001257377.1:p.Ser107=
XM_006721516.2:c.548G= XP_006721579.2:p.Ser183=
XM_011523829.1:c.548G= XP_011522131.1:p.Ser183=
XM_011523830.1:c.548G= XP_011522132.1:p.Ser183=
XR_934021.1:n.655G=
XR_934022.1:n.655G=
XR_934023.1:n.655G=
XM_006721516.3:c.548G= XP_006721579.2:p.Ser183=
XM_011523829.2:c.548G= XP_011522131.1:p.Ser183=
XM_011523830.2:c.548G= XP_011522132.1:p.Ser183=
XM_024450741.1:c.548G= XP_024306509.1:p.Ser183=
XR_934021.2:n.607G=
XR_934022.2:n.607G=
XR_934023.2:n.607G=
NM_000018.4:c.548G= MANE Select NP_000009.1:p.Ser183=
NM_001033859.3:c.482G= NP_001029031.1:p.Ser161=
NM_001270447.2:c.617G= NP_001257376.1:p.Ser206=
NM_001270448.2:c.320G= NP_001257377.1:p.Ser107=