Canonical Allele Identifier: CA2245700313
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221632T= , CM000679.2:g.7221632T= GRCh38
NC_000017.10:g.7124951T= , CM000679.1:g.7124951T= GRCh37
NC_000017.9:g.7065675T= NCBI36
NG_007975.1:g.6799T=
NG_008391.2:g.3419A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.572T= MANE Select ENSP00000349297.5:p.Leu191=
ENST00000322910.9:c.*527T= ENSP00000325395.5:n.*527T=
ENST00000350303.9:c.506T= ENSP00000344152.5:p.Leu169=
ENST00000356839.9:c.572T= ENSP00000349297.5:p.Leu191=
ENST00000543245.6:c.641T= ENSP00000438689.2:p.Leu214=
ENST00000577191.5:n.649T=
ENST00000577433.5:n.780T=
ENST00000577857.5:n.388T=
ENST00000579286.5:n.753T=
ENST00000579886.2:c.410T= ENSP00000463246.1:p.Leu137=
ENST00000580365.1:n.303T=
ENST00000581378.5:c.290T=
ENST00000581562.5:n.525-320T=
ENST00000583312.5:c.572T= ENSP00000467920.1:p.Leu191=
ENST00000583760.1:n.354T=
NM_000018.3:c.572T= NP_000009.1:p.Leu191=
NM_001033859.2:c.506T= NP_001029031.1:p.Leu169=
NM_001270447.1:c.641T= NP_001257376.1:p.Leu214=
NM_001270448.1:c.344T= NP_001257377.1:p.Leu115=
XM_006721516.2:c.572T= XP_006721579.2:p.Leu191=
XM_011523829.1:c.572T= XP_011522131.1:p.Leu191=
XM_011523830.1:c.572T= XP_011522132.1:p.Leu191=
XR_934021.1:n.679T=
XR_934022.1:n.679T=
XR_934023.1:n.679T=
XM_006721516.3:c.572T= XP_006721579.2:p.Leu191=
XM_011523829.2:c.572T= XP_011522131.1:p.Leu191=
XM_011523830.2:c.572T= XP_011522132.1:p.Leu191=
XM_024450741.1:c.572T= XP_024306509.1:p.Leu191=
XR_934021.2:n.631T=
XR_934022.2:n.631T=
XR_934023.2:n.631T=
NM_000018.4:c.572T= MANE Select NP_000009.1:p.Leu191=
NM_001033859.3:c.506T= NP_001029031.1:p.Leu169=
NM_001270447.2:c.641T= NP_001257376.1:p.Leu214=
NM_001270448.2:c.344T= NP_001257377.1:p.Leu115=