Canonical Allele Identifier: CA397723259
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2680242
ClinVar RCV Id: RCV003474414
gnomAD v4: 17-7221663-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221663C>A , CM000679.2:g.7221663C>A GRCh38
NC_000017.10:g.7124982C>A , CM000679.1:g.7124982C>A GRCh37
NC_000017.9:g.7065706C>A NCBI36
NG_007975.1:g.6830C>A
NG_008391.2:g.3388G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.603C>A MANE Select ENSP00000349297.5:p.Tyr201Ter
ENST00000322910.9:c.*558C>A ENSP00000325395.5:n.*558C>A
ENST00000350303.9:c.537C>A ENSP00000344152.5:p.Tyr179Ter
ENST00000356839.9:c.603C>A ENSP00000349297.5:p.Tyr201Ter
ENST00000543245.6:c.672C>A ENSP00000438689.2:p.Tyr224Ter
ENST00000577191.5:n.680C>A
ENST00000577857.5:n.419C>A
ENST00000579286.5:n.784C>A
ENST00000579886.2:c.441C>A ENSP00000463246.1:p.Tyr147Ter
ENST00000580365.1:n.334C>A
ENST00000581378.5:c.321C>A
ENST00000581562.5:n.525-289C>A
ENST00000583312.5:c.603C>A ENSP00000467920.1:p.Tyr201Ter
ENST00000583760.1:n.385C>A
NM_000018.3:c.603C>A NP_000009.1:p.Tyr201Ter
NM_001033859.2:c.537C>A NP_001029031.1:p.Tyr179Ter
NM_001270447.1:c.672C>A NP_001257376.1:p.Tyr224Ter
NM_001270448.1:c.375C>A NP_001257377.1:p.Tyr125Ter
XM_006721516.2:c.603C>A XP_006721579.2:p.Tyr201Ter
XM_011523829.1:c.603C>A XP_011522131.1:p.Tyr201Ter
XM_011523830.1:c.603C>A XP_011522132.1:p.Tyr201Ter
XR_934021.1:n.710C>A
XR_934022.1:n.710C>A
XR_934023.1:n.710C>A
XM_006721516.3:c.603C>A XP_006721579.2:p.Tyr201Ter
XM_011523829.2:c.603C>A XP_011522131.1:p.Tyr201Ter
XM_011523830.2:c.603C>A XP_011522132.1:p.Tyr201Ter
XM_024450741.1:c.603C>A XP_024306509.1:p.Tyr201Ter
XR_934021.2:n.662C>A
XR_934022.2:n.662C>A
XR_934023.2:n.662C>A
NM_000018.4:c.603C>A MANE Select NP_000009.1:p.Tyr201Ter
NM_001033859.3:c.537C>A NP_001029031.1:p.Tyr179Ter
NM_001270447.2:c.672C>A NP_001257376.1:p.Tyr224Ter
NM_001270448.2:c.375C>A NP_001257377.1:p.Tyr125Ter