Canonical Allele Identifier: CA287437666
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 427212
ClinVar RCV Id: RCV000489160 RCV001041886
dbSNP Id: rs956279629
gnomAD v3: 17-7222801-A-G
gnomAD v4: 17-7222801-A-G
MyVariant Identifiers: chr17:g.7126120A>G (hg19) chr17:g.7222801A>G (hg38)
ERepo: CA287437666/MONDO:0008723/021
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222801A>G , CM000679.2:g.7222801A>G GRCh38
NC_000017.10:g.7126120A>G , CM000679.1:g.7126120A>G GRCh37
NC_000017.9:g.7066844A>G NCBI36
NG_007975.1:g.7968A>G
NG_008391.2:g.2250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1013A>G MANE Select ENSP00000349297.5:p.Asn338Ser
ENST00000322910.9:c.*968A>G ENSP00000325395.5:n.*968A>G
ENST00000350303.9:c.947A>G ENSP00000344152.5:p.Asn316Ser
ENST00000356839.9:c.1013A>G ENSP00000349297.5:p.Asn338Ser
ENST00000543245.6:c.1082A>G ENSP00000438689.2:p.Asn361Ser
ENST00000578824.5:n.162A>G
ENST00000581378.5:c.731A>G
ENST00000582379.1:n.397A>G
ENST00000583858.5:c.42A>G
NM_000018.3:c.1013A>G NP_000009.1:p.Asn338Ser
NM_001033859.2:c.947A>G NP_001029031.1:p.Asn316Ser
NM_001270447.1:c.1082A>G NP_001257376.1:p.Asn361Ser
NM_001270448.1:c.785A>G NP_001257377.1:p.Asn262Ser
XM_006721516.2:c.1013A>G XP_006721579.2:p.Asn338Ser
XM_011523829.1:c.1013A>G XP_011522131.1:p.Asn338Ser
XM_011523830.1:c.1013A>G XP_011522132.1:p.Asn338Ser
XR_934021.1:n.1120A>G
XR_934022.1:n.1120A>G
XR_934023.1:n.1120A>G
XM_006721516.3:c.1013A>G XP_006721579.2:p.Asn338Ser
XM_011523829.2:c.1013A>G XP_011522131.1:p.Asn338Ser
XM_011523830.2:c.1013A>G XP_011522132.1:p.Asn338Ser
XM_024450741.1:c.1013A>G XP_024306509.1:p.Asn338Ser
XR_934021.2:n.1072A>G
XR_934022.2:n.1072A>G
XR_934023.2:n.1072A>G
NM_000018.4:c.1013A>G MANE Select NP_000009.1:p.Asn338Ser
NM_001033859.3:c.947A>G NP_001029031.1:p.Asn316Ser
NM_001270447.2:c.1082A>G NP_001257376.1:p.Asn361Ser
NM_001270448.2:c.785A>G NP_001257377.1:p.Asn262Ser
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