Canonical Allele Identifier: CA2245715876
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224890A= , CM000679.2:g.7224890A= GRCh38
NC_000017.10:g.7128209A= , CM000679.1:g.7128209A= GRCh37
NC_000017.9:g.7068933A= NCBI36
NG_007975.1:g.10057A=
NG_008391.2:g.161T=
NG_033038.1:g.14655T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1827+6A= MANE Select ENSP00000349297.5:n.1827+6A=
ENST00000322910.9:c.*1782+6A= ENSP00000325395.5:n.*1782+6A=
ENST00000350303.9:c.1761+6A= ENSP00000344152.5:n.1761+6A=
ENST00000356839.9:c.1827+6A= ENSP00000349297.5:n.1827+6A=
ENST00000542255.6:c.706+6A=
ENST00000543245.6:c.1896+6A= ENSP00000438689.2:n.1896+6A=
ENST00000578033.1:n.252+6A=
ENST00000578319.5:n.408+6A=
ENST00000578711.1:n.1386A=
ENST00000578809.5:n.399+6A=
ENST00000579425.5:n.943+6A=
ENST00000579546.1:c.562+6A=
ENST00000583848.5:c.193+6A= ENSP00000466487.1:n.193+6A=
ENST00000583850.5:n.598+6A=
ENST00000583858.5:c.758+6A=
NM_000018.3:c.1827+6A= NP_000009.1:n.1827+6A=
NM_001033859.2:c.1761+6A= NP_001029031.1:n.1761+6A=
NM_001270447.1:c.1896+6A= NP_001257376.1:n.1896+6A=
NM_001270448.1:c.1599+6A= NP_001257377.1:n.1599+6A=
XM_006721516.2:c.1848+6A= XP_006721579.2:n.1848+6A=
XM_011523829.1:c.1746+6A= XP_011522131.1:n.1746+6A=
XM_011523830.1:c.1725+6A= XP_011522132.1:n.1725+6A=
XR_934021.1:n.1930+6A=
XR_934022.1:n.1836+6A=
XR_934023.1:n.1857+6A=
XM_006721516.3:c.1848+6A= XP_006721579.2:n.1848+6A=
XM_011523829.2:c.1746+6A= XP_011522131.1:n.1746+6A=
XM_011523830.2:c.1725+6A= XP_011522132.1:n.1725+6A=
XM_024450741.1:c.1815+6A= XP_024306509.1:n.1815+6A=
XR_934021.2:n.1882+6A=
XR_934022.2:n.1788+6A=
XR_934023.2:n.1809+6A=
NM_000018.4:c.1827+6A= MANE Select NP_000009.1:n.1827+6A=
NM_001033859.3:c.1761+6A= NP_001029031.1:n.1761+6A=
NM_001270447.2:c.1896+6A= NP_001257376.1:n.1896+6A=
NM_001270448.2:c.1599+6A= NP_001257377.1:n.1599+6A=