Canonical Allele Identifier: CA397724880
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932765
ClinVar RCV Id: RCV001200705
dbSNP Id: rs2071347136
MyVariant Identifiers: chr17:g.7127191G>A (hg19) chr17:g.7223872G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223872G>A , CM000679.2:g.7223872G>A GRCh38
NC_000017.10:g.7127191G>A , CM000679.1:g.7127191G>A GRCh37
NC_000017.9:g.7067915G>A NCBI36
NG_007975.1:g.9039G>A
NG_008391.2:g.1179C>T
NG_033038.1:g.15673C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1329G>A MANE Select ENSP00000349297.5:p.Met443Ile
ENST00000322910.9:c.*1284G>A ENSP00000325395.5:n.*1284G>A
ENST00000350303.9:c.1263G>A ENSP00000344152.5:p.Met421Ile
ENST00000356839.9:c.1329G>A ENSP00000349297.5:p.Met443Ile
ENST00000542255.6:c.187G>A
ENST00000543245.6:c.1398G>A ENSP00000438689.2:p.Met466Ile
ENST00000578711.1:n.368G>A
ENST00000579425.5:n.353G>A
ENST00000579546.1:c.166G>A
ENST00000583074.5:n.48G>A
ENST00000583850.5:n.104G>A
ENST00000583858.5:c.358G>A
ENST00000585203.6:n.523+14G>A
NM_000018.3:c.1329G>A NP_000009.1:p.Met443Ile
NM_001033859.2:c.1263G>A NP_001029031.1:p.Met421Ile
NM_001270447.1:c.1398G>A NP_001257376.1:p.Met466Ile
NM_001270448.1:c.1101G>A NP_001257377.1:p.Met367Ile
XM_006721516.2:c.1329G>A XP_006721579.2:p.Met443Ile
XM_011523829.1:c.1329G>A XP_011522131.1:p.Met443Ile
XM_011523830.1:c.1329G>A XP_011522132.1:p.Met443Ile
XR_934021.1:n.1436G>A
XR_934022.1:n.1436G>A
XR_934023.1:n.1436G>A
XM_006721516.3:c.1329G>A XP_006721579.2:p.Met443Ile
XM_011523829.2:c.1329G>A XP_011522131.1:p.Met443Ile
XM_011523830.2:c.1329G>A XP_011522132.1:p.Met443Ile
XM_024450741.1:c.1329G>A XP_024306509.1:p.Met443Ile
XR_934021.2:n.1388G>A
XR_934022.2:n.1388G>A
XR_934023.2:n.1388G>A
NM_000018.4:c.1329G>A MANE Select NP_000009.1:p.Met443Ile
NM_001033859.3:c.1263G>A NP_001029031.1:p.Met421Ile
NM_001270447.2:c.1398G>A NP_001257376.1:p.Met466Ile
NM_001270448.2:c.1101G>A NP_001257377.1:p.Met367Ile
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