Canonical Allele Identifier: CA397724290
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126180A>G (hg19) chr17:g.7222861A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222861A>G , CM000679.2:g.7222861A>G GRCh38
NC_000017.10:g.7126180A>G , CM000679.1:g.7126180A>G GRCh37
NC_000017.9:g.7066904A>G NCBI36
NG_007975.1:g.8028A>G
NG_008391.2:g.2190T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1073A>G MANE Select ENSP00000349297.5:p.Lys358Arg
ENST00000322910.9:c.*1028A>G ENSP00000325395.5:n.*1028A>G
ENST00000350303.9:c.1007A>G ENSP00000344152.5:p.Lys336Arg
ENST00000356839.9:c.1073A>G ENSP00000349297.5:p.Lys358Arg
ENST00000543245.6:c.1142A>G ENSP00000438689.2:p.Lys381Arg
ENST00000578824.5:n.222A>G
ENST00000582379.1:n.457A>G
ENST00000583858.5:c.102A>G
ENST00000585203.6:n.14A>G
NM_000018.3:c.1073A>G NP_000009.1:p.Lys358Arg
NM_001033859.2:c.1007A>G NP_001029031.1:p.Lys336Arg
NM_001270447.1:c.1142A>G NP_001257376.1:p.Lys381Arg
NM_001270448.1:c.845A>G NP_001257377.1:p.Lys282Arg
XM_006721516.2:c.1073A>G XP_006721579.2:p.Lys358Arg
XM_011523829.1:c.1073A>G XP_011522131.1:p.Lys358Arg
XM_011523830.1:c.1073A>G XP_011522132.1:p.Lys358Arg
XR_934021.1:n.1180A>G
XR_934022.1:n.1180A>G
XR_934023.1:n.1180A>G
XM_006721516.3:c.1073A>G XP_006721579.2:p.Lys358Arg
XM_011523829.2:c.1073A>G XP_011522131.1:p.Lys358Arg
XM_011523830.2:c.1073A>G XP_011522132.1:p.Lys358Arg
XM_024450741.1:c.1073A>G XP_024306509.1:p.Lys358Arg
XR_934021.2:n.1132A>G
XR_934022.2:n.1132A>G
XR_934023.2:n.1132A>G
NM_000018.4:c.1073A>G MANE Select NP_000009.1:p.Lys358Arg
NM_001033859.3:c.1007A>G NP_001029031.1:p.Lys336Arg
NM_001270447.2:c.1142A>G NP_001257376.1:p.Lys381Arg
NM_001270448.2:c.845A>G NP_001257377.1:p.Lys282Arg
Search 100 bp 5'
Search 100 bp 3'