Canonical Allele Identifier: CA251903
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1623
dbSNP Id: rs118204014
gnomAD v2: 17-7128285-C-T
gnomAD v3: 17-7224966-C-T
gnomAD v4: 17-7224966-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224966C>T , CM000679.2:g.7224966C>T GRCh38
NC_000017.10:g.7128285C>T , CM000679.1:g.7128285C>T GRCh37
NC_000017.9:g.7069009C>T NCBI36
NG_007975.1:g.10133C>T
NG_008391.2:g.85G>A
NG_033038.1:g.14579G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1837C>T MANE Select ENSP00000349297.5:p.Arg613Trp
ENST00000322910.9:c.*1792C>T ENSP00000325395.5:n.*1792C>T
ENST00000350303.9:c.1771C>T ENSP00000344152.5:p.Arg591Trp
ENST00000356839.9:c.1837C>T ENSP00000349297.5:p.Arg613Trp
ENST00000542255.6:c.716C>T
ENST00000543245.6:c.1906C>T ENSP00000438689.2:p.Arg636Trp
ENST00000578033.1:n.262C>T
ENST00000578319.5:n.418C>T
ENST00000578711.1:n.1462C>T
ENST00000578809.5:n.409C>T
ENST00000579425.5:n.953C>T
ENST00000579546.1:c.572C>T
ENST00000583848.5:c.203C>T ENSP00000466487.1:n.203C>T
ENST00000583850.5:n.608C>T
ENST00000583858.5:c.768C>T
NM_000018.3:c.1837C>T NP_000009.1:p.Arg613Trp
NM_001033859.2:c.1771C>T NP_001029031.1:p.Arg591Trp
NM_001270447.1:c.1906C>T NP_001257376.1:p.Arg636Trp
NM_001270448.1:c.1609C>T NP_001257377.1:p.Arg537Trp
XM_006721516.2:c.1858C>T XP_006721579.2:p.Arg620Trp
XM_011523829.1:c.1756C>T XP_011522131.1:p.Arg586Trp
XM_011523830.1:c.1735C>T XP_011522132.1:p.Arg579Trp
XR_934021.1:n.1940C>T
XR_934022.1:n.1846C>T
XR_934023.1:n.1867C>T
XM_006721516.3:c.1858C>T XP_006721579.2:p.Arg620Trp
XM_011523829.2:c.1756C>T XP_011522131.1:p.Arg586Trp
XM_011523830.2:c.1735C>T XP_011522132.1:p.Arg579Trp
XM_024450741.1:c.1825C>T XP_024306509.1:p.Arg609Trp
XR_934021.2:n.1892C>T
XR_934022.2:n.1798C>T
XR_934023.2:n.1819C>T
NM_000018.4:c.1837C>T MANE Select NP_000009.1:p.Arg613Trp
NM_001033859.3:c.1771C>T NP_001029031.1:p.Arg591Trp
NM_001270447.2:c.1906C>T NP_001257376.1:p.Arg636Trp
NM_001270448.2:c.1609C>T NP_001257377.1:p.Arg537Trp