Canonical Allele Identifier: CA2245711447
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223655C= , CM000679.2:g.7223655C= GRCh38
NC_000017.10:g.7126974C= , CM000679.1:g.7126974C= GRCh37
NC_000017.9:g.7067698C= NCBI36
NG_007975.1:g.8822C=
NG_008391.2:g.1396G=
NG_033038.1:g.15890G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1194C= MANE Select ENSP00000349297.5:p.Tyr398=
ENST00000322910.9:c.*1149C= ENSP00000325395.5:n.*1149C=
ENST00000350303.9:c.1128C= ENSP00000344152.5:p.Tyr376=
ENST00000356839.9:c.1194C= ENSP00000349297.5:p.Tyr398=
ENST00000542255.6:c.52C=
ENST00000543245.6:c.1263C= ENSP00000438689.2:p.Tyr421=
ENST00000578579.2:n.365C=
ENST00000578711.1:n.151C=
ENST00000578824.5:n.610C=
ENST00000579425.5:n.218C=
ENST00000579546.1:c.31C=
ENST00000583858.5:c.223C=
ENST00000585203.6:n.402C=
NM_000018.3:c.1194C= NP_000009.1:p.Tyr398=
NM_001033859.2:c.1128C= NP_001029031.1:p.Tyr376=
NM_001270447.1:c.1263C= NP_001257376.1:p.Tyr421=
NM_001270448.1:c.966C= NP_001257377.1:p.Tyr322=
XM_006721516.2:c.1194C= XP_006721579.2:p.Tyr398=
XM_011523829.1:c.1194C= XP_011522131.1:p.Tyr398=
XM_011523830.1:c.1194C= XP_011522132.1:p.Tyr398=
XR_934021.1:n.1301C=
XR_934022.1:n.1301C=
XR_934023.1:n.1301C=
XM_006721516.3:c.1194C= XP_006721579.2:p.Tyr398=
XM_011523829.2:c.1194C= XP_011522131.1:p.Tyr398=
XM_011523830.2:c.1194C= XP_011522132.1:p.Tyr398=
XM_024450741.1:c.1194C= XP_024306509.1:p.Tyr398=
XR_934021.2:n.1253C=
XR_934022.2:n.1253C=
XR_934023.2:n.1253C=
NM_000018.4:c.1194C= MANE Select NP_000009.1:p.Tyr398=
NM_001033859.3:c.1128C= NP_001029031.1:p.Tyr376=
NM_001270447.2:c.1263C= NP_001257376.1:p.Tyr421=
NM_001270448.2:c.966C= NP_001257377.1:p.Tyr322=