Canonical Allele Identifier: CA2245709565
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222765T= , CM000679.2:g.7222765T= GRCh38
NC_000017.10:g.7126084T= , CM000679.1:g.7126084T= GRCh37
NC_000017.9:g.7066808T= NCBI36
NG_007975.1:g.7932T=
NG_008391.2:g.2286A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.977T= MANE Select ENSP00000349297.5:p.Val326=
ENST00000322910.9:c.*932T= ENSP00000325395.5:n.*932T=
ENST00000350303.9:c.911T= ENSP00000344152.5:p.Val304=
ENST00000356839.9:c.977T= ENSP00000349297.5:p.Val326=
ENST00000543245.6:c.1046T= ENSP00000438689.2:p.Val349=
ENST00000578824.5:n.126T=
ENST00000581378.5:c.695T=
ENST00000582379.1:n.361T=
ENST00000583858.5:c.6T=
NM_000018.3:c.977T= NP_000009.1:p.Val326=
NM_001033859.2:c.911T= NP_001029031.1:p.Val304=
NM_001270447.1:c.1046T= NP_001257376.1:p.Val349=
NM_001270448.1:c.749T= NP_001257377.1:p.Val250=
XM_006721516.2:c.977T= XP_006721579.2:p.Val326=
XM_011523829.1:c.977T= XP_011522131.1:p.Val326=
XM_011523830.1:c.977T= XP_011522132.1:p.Val326=
XR_934021.1:n.1084T=
XR_934022.1:n.1084T=
XR_934023.1:n.1084T=
XM_006721516.3:c.977T= XP_006721579.2:p.Val326=
XM_011523829.2:c.977T= XP_011522131.1:p.Val326=
XM_011523830.2:c.977T= XP_011522132.1:p.Val326=
XM_024450741.1:c.977T= XP_024306509.1:p.Val326=
XR_934021.2:n.1036T=
XR_934022.2:n.1036T=
XR_934023.2:n.1036T=
NM_000018.4:c.977T= MANE Select NP_000009.1:p.Val326=
NM_001033859.3:c.911T= NP_001029031.1:p.Val304=
NM_001270447.2:c.1046T= NP_001257376.1:p.Val349=
NM_001270448.2:c.749T= NP_001257377.1:p.Val250=