Canonical Allele Identifier: CA285294
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 21025
dbSNP Id: rs113994167
gnomAD v2: 17-7125591-T-C
gnomAD v3: 17-7222272-T-C
gnomAD v4: 17-7222272-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222272T>C , CM000679.2:g.7222272T>C GRCh38
NC_000017.10:g.7125591T>C , CM000679.1:g.7125591T>C GRCh37
NC_000017.9:g.7066315T>C NCBI36
NG_007975.1:g.7439T>C
NG_008391.2:g.2779A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.848T>C MANE Select ENSP00000349297.5:p.Val283Ala
ENST00000322910.9:c.*803T>C ENSP00000325395.5:n.*803T>C
ENST00000350303.9:c.782T>C ENSP00000344152.5:p.Val261Ala
ENST00000356839.9:c.848T>C ENSP00000349297.5:p.Val283Ala
ENST00000543245.6:c.917T>C ENSP00000438689.2:p.Val306Ala
ENST00000577191.5:n.1020T>C
ENST00000581378.5:c.566T>C
ENST00000582379.1:n.232T>C
NM_000018.3:c.848T>C NP_000009.1:p.Val283Ala
NM_001033859.2:c.782T>C NP_001029031.1:p.Val261Ala
NM_001270447.1:c.917T>C NP_001257376.1:p.Val306Ala
NM_001270448.1:c.620T>C NP_001257377.1:p.Val207Ala
XM_006721516.2:c.848T>C XP_006721579.2:p.Val283Ala
XM_011523829.1:c.848T>C XP_011522131.1:p.Val283Ala
XM_011523830.1:c.848T>C XP_011522132.1:p.Val283Ala
XR_934021.1:n.955T>C
XR_934022.1:n.955T>C
XR_934023.1:n.955T>C
XM_006721516.3:c.848T>C XP_006721579.2:p.Val283Ala
XM_011523829.2:c.848T>C XP_011522131.1:p.Val283Ala
XM_011523830.2:c.848T>C XP_011522132.1:p.Val283Ala
XM_024450741.1:c.848T>C XP_024306509.1:p.Val283Ala
XR_934021.2:n.907T>C
XR_934022.2:n.907T>C
XR_934023.2:n.907T>C
NM_000018.4:c.848T>C MANE Select NP_000009.1:p.Val283Ala
NM_001033859.3:c.782T>C NP_001029031.1:p.Val261Ala
NM_001270447.2:c.917T>C NP_001257376.1:p.Val306Ala
NM_001270448.2:c.620T>C NP_001257377.1:p.Val207Ala