Canonical Allele Identifier: CA2245700601
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221796T= , CM000679.2:g.7221796T= GRCh38
NC_000017.10:g.7125115T= , CM000679.1:g.7125115T= GRCh37
NC_000017.9:g.7065839T= NCBI36
NG_007975.1:g.6963T=
NG_008391.2:g.3255A=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.622+114T= MANE Select ENSP00000349297.5:n.622+114T=
ENST00000322910.9:c.*577+114T= ENSP00000325395.5:n.*577+114T=
ENST00000350303.9:c.556+114T= ENSP00000344152.5:n.556+114T=
ENST00000356839.9:c.622+114T= ENSP00000349297.5:n.622+114T=
ENST00000543245.6:c.691+114T= ENSP00000438689.2:n.691+114T=
ENST00000577191.5:n.699+114T=
ENST00000577857.5:n.438+114T=
ENST00000579286.5:n.803+114T=
ENST00000579886.2:c.460+114T= ENSP00000463246.1:n.460+114T=
ENST00000580365.1:n.353+114T=
ENST00000581378.5:c.340+114T=
ENST00000581562.5:n.525-156T=
ENST00000583312.5:c.622+114T= ENSP00000467920.1:n.622+114T=
ENST00000583760.1:n.404+114T=
NM_000018.3:c.622+114T= NP_000009.1:n.622+114T=
NM_001033859.2:c.556+114T= NP_001029031.1:n.556+114T=
NM_001270447.1:c.691+114T= NP_001257376.1:n.691+114T=
NM_001270448.1:c.394+114T= NP_001257377.1:n.394+114T=
XM_006721516.2:c.622+114T= XP_006721579.2:n.622+114T=
XM_011523829.1:c.622+114T= XP_011522131.1:n.622+114T=
XM_011523830.1:c.622+114T= XP_011522132.1:n.622+114T=
XR_934021.1:n.729+114T=
XR_934022.1:n.729+114T=
XR_934023.1:n.729+114T=
XM_006721516.3:c.622+114T= XP_006721579.2:n.622+114T=
XM_011523829.2:c.622+114T= XP_011522131.1:n.622+114T=
XM_011523830.2:c.622+114T= XP_011522132.1:n.622+114T=
XM_024450741.1:c.622+114T= XP_024306509.1:n.622+114T=
XR_934021.2:n.681+114T=
XR_934022.2:n.681+114T=
XR_934023.2:n.681+114T=
NM_000018.4:c.622+114T= MANE Select NP_000009.1:n.622+114T=
NM_001033859.3:c.556+114T= NP_001029031.1:n.556+114T=
NM_001270447.2:c.691+114T= NP_001257376.1:n.691+114T=
NM_001270448.2:c.394+114T= NP_001257377.1:n.394+114T=