Canonical Allele Identifier: CA2245709434
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222737G= , CM000679.2:g.7222737G= GRCh38
NC_000017.10:g.7126056G= , CM000679.1:g.7126056G= GRCh37
NC_000017.9:g.7066780G= NCBI36
NG_007975.1:g.7904G=
NG_008391.2:g.2314C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.949G= MANE Select ENSP00000349297.5:p.Val317=
ENST00000322910.9:c.*904G= ENSP00000325395.5:n.*904G=
ENST00000350303.9:c.883G= ENSP00000344152.5:p.Val295=
ENST00000356839.9:c.949G= ENSP00000349297.5:p.Val317=
ENST00000543245.6:c.1018G= ENSP00000438689.2:p.Val340=
ENST00000578824.5:n.98G=
ENST00000581378.5:c.667G=
ENST00000582379.1:n.333G=
NM_000018.3:c.949G= NP_000009.1:p.Val317=
NM_001033859.2:c.883G= NP_001029031.1:p.Val295=
NM_001270447.1:c.1018G= NP_001257376.1:p.Val340=
NM_001270448.1:c.721G= NP_001257377.1:p.Val241=
XM_006721516.2:c.949G= XP_006721579.2:p.Val317=
XM_011523829.1:c.949G= XP_011522131.1:p.Val317=
XM_011523830.1:c.949G= XP_011522132.1:p.Val317=
XR_934021.1:n.1056G=
XR_934022.1:n.1056G=
XR_934023.1:n.1056G=
XM_006721516.3:c.949G= XP_006721579.2:p.Val317=
XM_011523829.2:c.949G= XP_011522131.1:p.Val317=
XM_011523830.2:c.949G= XP_011522132.1:p.Val317=
XM_024450741.1:c.949G= XP_024306509.1:p.Val317=
XR_934021.2:n.1008G=
XR_934022.2:n.1008G=
XR_934023.2:n.1008G=
NM_000018.4:c.949G= MANE Select NP_000009.1:p.Val317=
NM_001033859.3:c.883G= NP_001029031.1:p.Val295=
NM_001270447.2:c.1018G= NP_001257376.1:p.Val340=
NM_001270448.2:c.721G= NP_001257377.1:p.Val241=