Canonical Allele Identifier: CA397723106
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 430156
dbSNP Id: rs1131691808
gnomAD v4: 17-7221593-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221593T>C , CM000679.2:g.7221593T>C GRCh38
NC_000017.10:g.7124912T>C , CM000679.1:g.7124912T>C GRCh37
NC_000017.9:g.7065636T>C NCBI36
NG_007975.1:g.6760T>C
NG_008391.2:g.3458A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.533T>C MANE Select ENSP00000349297.5:p.Leu178Pro
ENST00000322910.9:c.*488T>C ENSP00000325395.5:n.*488T>C
ENST00000350303.9:c.467T>C ENSP00000344152.5:p.Leu156Pro
ENST00000356839.9:c.533T>C ENSP00000349297.5:p.Leu178Pro
ENST00000543245.6:c.602T>C ENSP00000438689.2:p.Leu201Pro
ENST00000577191.5:n.610T>C
ENST00000577433.5:n.741T>C
ENST00000577857.5:n.349T>C
ENST00000579286.5:n.714T>C
ENST00000579886.2:c.371T>C ENSP00000463246.1:p.Leu124Pro
ENST00000580365.1:n.264T>C
ENST00000581378.5:c.251T>C
ENST00000581562.5:n.525-359T>C
ENST00000582166.1:n.514T>C
ENST00000583312.5:c.533T>C ENSP00000467920.1:p.Leu178Pro
ENST00000583760.1:n.315T>C
NM_000018.3:c.533T>C NP_000009.1:p.Leu178Pro
NM_001033859.2:c.467T>C NP_001029031.1:p.Leu156Pro
NM_001270447.1:c.602T>C NP_001257376.1:p.Leu201Pro
NM_001270448.1:c.305T>C NP_001257377.1:p.Leu102Pro
XM_006721516.2:c.533T>C XP_006721579.2:p.Leu178Pro
XM_011523829.1:c.533T>C XP_011522131.1:p.Leu178Pro
XM_011523830.1:c.533T>C XP_011522132.1:p.Leu178Pro
XR_934021.1:n.640T>C
XR_934022.1:n.640T>C
XR_934023.1:n.640T>C
XM_006721516.3:c.533T>C XP_006721579.2:p.Leu178Pro
XM_011523829.2:c.533T>C XP_011522131.1:p.Leu178Pro
XM_011523830.2:c.533T>C XP_011522132.1:p.Leu178Pro
XM_024450741.1:c.533T>C XP_024306509.1:p.Leu178Pro
XR_934021.2:n.592T>C
XR_934022.2:n.592T>C
XR_934023.2:n.592T>C
NM_000018.4:c.533T>C MANE Select NP_000009.1:p.Leu178Pro
NM_001033859.3:c.467T>C NP_001029031.1:p.Leu156Pro
NM_001270447.2:c.602T>C NP_001257376.1:p.Leu201Pro
NM_001270448.2:c.305T>C NP_001257377.1:p.Leu102Pro