Canonical Allele Identifier: CA397722894
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2116677
ClinVar RCV Id: RCV003035127
gnomAD v4: 17-7221015-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221015A>C , CM000679.2:g.7221015A>C GRCh38
NC_000017.10:g.7124334A>C , CM000679.1:g.7124334A>C GRCh37
NC_000017.9:g.7065058A>C NCBI36
NG_007975.1:g.6182A>C
NG_008391.2:g.4036T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.434A>C MANE Select ENSP00000349297.5:p.Gln145Pro
ENST00000322910.9:c.*389A>C ENSP00000325395.5:n.*389A>C
ENST00000350303.9:c.368A>C ENSP00000344152.5:p.Gln123Pro
ENST00000356839.9:c.434A>C ENSP00000349297.5:p.Gln145Pro
ENST00000543245.6:c.503A>C ENSP00000438689.2:p.Gln168Pro
ENST00000577191.5:n.511A>C
ENST00000577433.5:n.642A>C
ENST00000577857.5:n.293+185A>C
ENST00000579286.5:n.615A>C
ENST00000579886.2:c.272A>C ENSP00000463246.1:p.Gln91Pro
ENST00000580365.1:n.165A>C
ENST00000581378.5:c.133A>C
ENST00000581562.5:n.481A>C
ENST00000582056.5:n.617A>C
ENST00000582166.1:n.415A>C
ENST00000583312.5:c.434A>C ENSP00000467920.1:p.Gln145Pro
ENST00000584103.5:c.467A>C ENSP00000465353.1:p.Gln156Pro
NM_000018.3:c.434A>C NP_000009.1:p.Gln145Pro
NM_001033859.2:c.368A>C NP_001029031.1:p.Gln123Pro
NM_001270447.1:c.503A>C NP_001257376.1:p.Gln168Pro
NM_001270448.1:c.206A>C NP_001257377.1:p.Gln69Pro
XM_006721516.2:c.434A>C XP_006721579.2:p.Gln145Pro
XM_011523829.1:c.434A>C XP_011522131.1:p.Gln145Pro
XM_011523830.1:c.434A>C XP_011522132.1:p.Gln145Pro
XR_934021.1:n.541A>C
XR_934022.1:n.541A>C
XR_934023.1:n.541A>C
XM_006721516.3:c.434A>C XP_006721579.2:p.Gln145Pro
XM_011523829.2:c.434A>C XP_011522131.1:p.Gln145Pro
XM_011523830.2:c.434A>C XP_011522132.1:p.Gln145Pro
XM_024450741.1:c.434A>C XP_024306509.1:p.Gln145Pro
XR_934021.2:n.493A>C
XR_934022.2:n.493A>C
XR_934023.2:n.493A>C
NM_000018.4:c.434A>C MANE Select NP_000009.1:p.Gln145Pro
NM_001033859.3:c.368A>C NP_001029031.1:p.Gln123Pro
NM_001270447.2:c.503A>C NP_001257376.1:p.Gln168Pro
NM_001270448.2:c.206A>C NP_001257377.1:p.Gln69Pro