Canonical Allele Identifier: CA8337820
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932890
dbSNP Id: rs772999007
gnomAD v2: 17-7125376-T-A
gnomAD v4: 17-7222057-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222057T>A , CM000679.2:g.7222057T>A GRCh38
NC_000017.10:g.7125376T>A , CM000679.1:g.7125376T>A GRCh37
NC_000017.9:g.7066100T>A NCBI36
NG_007975.1:g.7224T>A
NG_008391.2:g.2994A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.728T>A MANE Select ENSP00000349297.5:p.Leu243His
ENST00000322910.9:c.*683T>A ENSP00000325395.5:n.*683T>A
ENST00000350303.9:c.662T>A ENSP00000344152.5:p.Leu221His
ENST00000356839.9:c.728T>A ENSP00000349297.5:p.Leu243His
ENST00000543245.6:c.797T>A ENSP00000438689.2:p.Leu266His
ENST00000577191.5:n.805T>A
ENST00000577857.5:n.544T>A
ENST00000579286.5:n.909T>A
ENST00000580365.1:n.459T>A
ENST00000581378.5:c.446T>A
ENST00000582379.1:n.112T>A
ENST00000583760.1:n.510T>A
NM_000018.3:c.728T>A NP_000009.1:p.Leu243His
NM_001033859.2:c.662T>A NP_001029031.1:p.Leu221His
NM_001270447.1:c.797T>A NP_001257376.1:p.Leu266His
NM_001270448.1:c.500T>A NP_001257377.1:p.Leu167His
XM_006721516.2:c.728T>A XP_006721579.2:p.Leu243His
XM_011523829.1:c.728T>A XP_011522131.1:p.Leu243His
XM_011523830.1:c.728T>A XP_011522132.1:p.Leu243His
XR_934021.1:n.835T>A
XR_934022.1:n.835T>A
XR_934023.1:n.835T>A
XM_006721516.3:c.728T>A XP_006721579.2:p.Leu243His
XM_011523829.2:c.728T>A XP_011522131.1:p.Leu243His
XM_011523830.2:c.728T>A XP_011522132.1:p.Leu243His
XM_024450741.1:c.728T>A XP_024306509.1:p.Leu243His
XR_934021.2:n.787T>A
XR_934022.2:n.787T>A
XR_934023.2:n.787T>A
NM_000018.4:c.728T>A MANE Select NP_000009.1:p.Leu243His
NM_001033859.3:c.662T>A NP_001029031.1:p.Leu221His
NM_001270447.2:c.797T>A NP_001257376.1:p.Leu266His
NM_001270448.2:c.500T>A NP_001257377.1:p.Leu167His