Canonical Allele Identifier: CA200650
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 193541
ClinVar RCV Id: RCV000173615 RCV000544014 RCV001704250
dbSNP Id: rs150140386
ExAC: 17:7126173 A / G
gnomAD v2: 17-7126173-A-G
gnomAD v3: 17-7222854-A-G
gnomAD v4: 17-7222854-A-G
MyVariant Identifiers: chr17:g.7126173A>G (hg19) chr17:g.7222854A>G (hg38)
ERepo: CA200650/MONDO:0008723/021
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222854A>G , CM000679.2:g.7222854A>G GRCh38
NC_000017.10:g.7126173A>G , CM000679.1:g.7126173A>G GRCh37
NC_000017.9:g.7066897A>G NCBI36
NG_007975.1:g.8021A>G
NG_008391.2:g.2197T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1066A>G MANE Select ENSP00000349297.5:p.Ile356Val
ENST00000322910.9:c.*1021A>G ENSP00000325395.5:n.*1021A>G
ENST00000350303.9:c.1000A>G ENSP00000344152.5:p.Ile334Val
ENST00000356839.9:c.1066A>G ENSP00000349297.5:p.Ile356Val
ENST00000543245.6:c.1135A>G ENSP00000438689.2:p.Ile379Val
ENST00000578824.5:n.215A>G
ENST00000582379.1:n.450A>G
ENST00000583858.5:c.95A>G
ENST00000585203.6:n.7A>G
NM_000018.3:c.1066A>G NP_000009.1:p.Ile356Val
NM_001033859.2:c.1000A>G NP_001029031.1:p.Ile334Val
NM_001270447.1:c.1135A>G NP_001257376.1:p.Ile379Val
NM_001270448.1:c.838A>G NP_001257377.1:p.Ile280Val
XM_006721516.2:c.1066A>G XP_006721579.2:p.Ile356Val
XM_011523829.1:c.1066A>G XP_011522131.1:p.Ile356Val
XM_011523830.1:c.1066A>G XP_011522132.1:p.Ile356Val
XR_934021.1:n.1173A>G
XR_934022.1:n.1173A>G
XR_934023.1:n.1173A>G
XM_006721516.3:c.1066A>G XP_006721579.2:p.Ile356Val
XM_011523829.2:c.1066A>G XP_011522131.1:p.Ile356Val
XM_011523830.2:c.1066A>G XP_011522132.1:p.Ile356Val
XM_024450741.1:c.1066A>G XP_024306509.1:p.Ile356Val
XR_934021.2:n.1125A>G
XR_934022.2:n.1125A>G
XR_934023.2:n.1125A>G
NM_000018.4:c.1066A>G MANE Select NP_000009.1:p.Ile356Val
NM_001033859.3:c.1000A>G NP_001029031.1:p.Ile334Val
NM_001270447.2:c.1135A>G NP_001257376.1:p.Ile379Val
NM_001270448.2:c.838A>G NP_001257377.1:p.Ile280Val
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