Canonical Allele Identifier: CA397723777
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222255G>C , CM000679.2:g.7222255G>C GRCh38
NC_000017.10:g.7125574G>C , CM000679.1:g.7125574G>C GRCh37
NC_000017.9:g.7066298G>C NCBI36
NG_007975.1:g.7422G>C
NG_008391.2:g.2796C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.831G>C MANE Select ENSP00000349297.5:p.Glu277Asp
ENST00000322910.9:c.*786G>C ENSP00000325395.5:n.*786G>C
ENST00000350303.9:c.765G>C ENSP00000344152.5:p.Glu255Asp
ENST00000356839.9:c.831G>C ENSP00000349297.5:p.Glu277Asp
ENST00000543245.6:c.900G>C ENSP00000438689.2:p.Glu300Asp
ENST00000577191.5:n.1003G>C
ENST00000581378.5:c.549G>C
ENST00000582379.1:n.215G>C
NM_000018.3:c.831G>C NP_000009.1:p.Glu277Asp
NM_001033859.2:c.765G>C NP_001029031.1:p.Glu255Asp
NM_001270447.1:c.900G>C NP_001257376.1:p.Glu300Asp
NM_001270448.1:c.603G>C NP_001257377.1:p.Glu201Asp
XM_006721516.2:c.831G>C XP_006721579.2:p.Glu277Asp
XM_011523829.1:c.831G>C XP_011522131.1:p.Glu277Asp
XM_011523830.1:c.831G>C XP_011522132.1:p.Glu277Asp
XR_934021.1:n.938G>C
XR_934022.1:n.938G>C
XR_934023.1:n.938G>C
XM_006721516.3:c.831G>C XP_006721579.2:p.Glu277Asp
XM_011523829.2:c.831G>C XP_011522131.1:p.Glu277Asp
XM_011523830.2:c.831G>C XP_011522132.1:p.Glu277Asp
XM_024450741.1:c.831G>C XP_024306509.1:p.Glu277Asp
XR_934021.2:n.890G>C
XR_934022.2:n.890G>C
XR_934023.2:n.890G>C
NM_000018.4:c.831G>C MANE Select NP_000009.1:p.Glu277Asp
NM_001033859.3:c.765G>C NP_001029031.1:p.Glu255Asp
NM_001270447.2:c.900G>C NP_001257376.1:p.Glu300Asp
NM_001270448.2:c.603G>C NP_001257377.1:p.Glu201Asp