Canonical Allele Identifier: CA2245699515
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221186T= , CM000679.2:g.7221186T= GRCh38
NC_000017.10:g.7124505T= , CM000679.1:g.7124505T= GRCh37
NC_000017.9:g.7065229T= NCBI36
NG_007975.1:g.6353T=
NG_008391.2:g.3865A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.477+128T= MANE Select ENSP00000349297.5:n.477+128T=
ENST00000322910.9:c.*432+128T= ENSP00000325395.5:n.*432+128T=
ENST00000350303.9:c.411+128T= ENSP00000344152.5:n.411+128T=
ENST00000356839.9:c.477+128T= ENSP00000349297.5:n.477+128T=
ENST00000543245.6:c.546+128T= ENSP00000438689.2:n.546+128T=
ENST00000577191.5:n.554+128T=
ENST00000577433.5:n.685+128T=
ENST00000577857.5:n.294-352T=
ENST00000579286.5:n.658+128T=
ENST00000579886.2:c.315+128T= ENSP00000463246.1:n.315+128T=
ENST00000580365.1:n.208+128T=
ENST00000581378.5:c.176+128T=
ENST00000581562.5:n.524+128T=
ENST00000582166.1:n.458+128T=
ENST00000583312.5:c.477+128T= ENSP00000467920.1:n.477+128T=
NM_000018.3:c.477+128T= NP_000009.1:n.477+128T=
NM_001033859.2:c.411+128T= NP_001029031.1:n.411+128T=
NM_001270447.1:c.546+128T= NP_001257376.1:n.546+128T=
NM_001270448.1:c.249+128T= NP_001257377.1:n.249+128T=
XM_006721516.2:c.477+128T= XP_006721579.2:n.477+128T=
XM_011523829.1:c.477+128T= XP_011522131.1:n.477+128T=
XM_011523830.1:c.477+128T= XP_011522132.1:n.477+128T=
XR_934021.1:n.584+128T=
XR_934022.1:n.584+128T=
XR_934023.1:n.584+128T=
XM_006721516.3:c.477+128T= XP_006721579.2:n.477+128T=
XM_011523829.2:c.477+128T= XP_011522131.1:n.477+128T=
XM_011523830.2:c.477+128T= XP_011522132.1:n.477+128T=
XM_024450741.1:c.477+128T= XP_024306509.1:n.477+128T=
XR_934021.2:n.536+128T=
XR_934022.2:n.536+128T=
XR_934023.2:n.536+128T=
NM_000018.4:c.477+128T= MANE Select NP_000009.1:n.477+128T=
NM_001033859.3:c.411+128T= NP_001029031.1:n.411+128T=
NM_001270447.2:c.546+128T= NP_001257376.1:n.546+128T=
NM_001270448.2:c.249+128T= NP_001257377.1:n.249+128T=