Canonical Allele Identifier: CA397723168
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221621A>C , CM000679.2:g.7221621A>C GRCh38
NC_000017.10:g.7124940A>C , CM000679.1:g.7124940A>C GRCh37
NC_000017.9:g.7065664A>C NCBI36
NG_007975.1:g.6788A>C
NG_008391.2:g.3430T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.561A>C MANE Select ENSP00000349297.5:p.Lys187Asn
ENST00000322910.9:c.*516A>C ENSP00000325395.5:n.*516A>C
ENST00000350303.9:c.495A>C ENSP00000344152.5:p.Lys165Asn
ENST00000356839.9:c.561A>C ENSP00000349297.5:p.Lys187Asn
ENST00000543245.6:c.630A>C ENSP00000438689.2:p.Lys210Asn
ENST00000577191.5:n.638A>C
ENST00000577433.5:n.769A>C
ENST00000577857.5:n.377A>C
ENST00000579286.5:n.742A>C
ENST00000579886.2:c.399A>C ENSP00000463246.1:p.Lys133Asn
ENST00000580365.1:n.292A>C
ENST00000581378.5:c.279A>C
ENST00000581562.5:n.525-331A>C
ENST00000582166.1:n.542A>C
ENST00000583312.5:c.561A>C ENSP00000467920.1:p.Lys187Asn
ENST00000583760.1:n.343A>C
NM_000018.3:c.561A>C NP_000009.1:p.Lys187Asn
NM_001033859.2:c.495A>C NP_001029031.1:p.Lys165Asn
NM_001270447.1:c.630A>C NP_001257376.1:p.Lys210Asn
NM_001270448.1:c.333A>C NP_001257377.1:p.Lys111Asn
XM_006721516.2:c.561A>C XP_006721579.2:p.Lys187Asn
XM_011523829.1:c.561A>C XP_011522131.1:p.Lys187Asn
XM_011523830.1:c.561A>C XP_011522132.1:p.Lys187Asn
XR_934021.1:n.668A>C
XR_934022.1:n.668A>C
XR_934023.1:n.668A>C
XM_006721516.3:c.561A>C XP_006721579.2:p.Lys187Asn
XM_011523829.2:c.561A>C XP_011522131.1:p.Lys187Asn
XM_011523830.2:c.561A>C XP_011522132.1:p.Lys187Asn
XM_024450741.1:c.561A>C XP_024306509.1:p.Lys187Asn
XR_934021.2:n.620A>C
XR_934022.2:n.620A>C
XR_934023.2:n.620A>C
NM_000018.4:c.561A>C MANE Select NP_000009.1:p.Lys187Asn
NM_001033859.3:c.495A>C NP_001029031.1:p.Lys165Asn
NM_001270447.2:c.630A>C NP_001257376.1:p.Lys210Asn
NM_001270448.2:c.333A>C NP_001257377.1:p.Lys111Asn