Canonical Allele Identifier: CA397724167
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222803-A-G
MyVariant Identifiers: chr17:g.7126122A>G (hg19) chr17:g.7222803A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222803A>G , CM000679.2:g.7222803A>G GRCh38
NC_000017.10:g.7126122A>G , CM000679.1:g.7126122A>G GRCh37
NC_000017.9:g.7066846A>G NCBI36
NG_007975.1:g.7970A>G
NG_008391.2:g.2248T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1015A>G MANE Select ENSP00000349297.5:p.Asn339Asp
ENST00000322910.9:c.*970A>G ENSP00000325395.5:n.*970A>G
ENST00000350303.9:c.949A>G ENSP00000344152.5:p.Asn317Asp
ENST00000356839.9:c.1015A>G ENSP00000349297.5:p.Asn339Asp
ENST00000543245.6:c.1084A>G ENSP00000438689.2:p.Asn362Asp
ENST00000578824.5:n.164A>G
ENST00000581378.5:c.733A>G
ENST00000582379.1:n.399A>G
ENST00000583858.5:c.44A>G
NM_000018.3:c.1015A>G NP_000009.1:p.Asn339Asp
NM_001033859.2:c.949A>G NP_001029031.1:p.Asn317Asp
NM_001270447.1:c.1084A>G NP_001257376.1:p.Asn362Asp
NM_001270448.1:c.787A>G NP_001257377.1:p.Asn263Asp
XM_006721516.2:c.1015A>G XP_006721579.2:p.Asn339Asp
XM_011523829.1:c.1015A>G XP_011522131.1:p.Asn339Asp
XM_011523830.1:c.1015A>G XP_011522132.1:p.Asn339Asp
XR_934021.1:n.1122A>G
XR_934022.1:n.1122A>G
XR_934023.1:n.1122A>G
XM_006721516.3:c.1015A>G XP_006721579.2:p.Asn339Asp
XM_011523829.2:c.1015A>G XP_011522131.1:p.Asn339Asp
XM_011523830.2:c.1015A>G XP_011522132.1:p.Asn339Asp
XM_024450741.1:c.1015A>G XP_024306509.1:p.Asn339Asp
XR_934021.2:n.1074A>G
XR_934022.2:n.1074A>G
XR_934023.2:n.1074A>G
NM_000018.4:c.1015A>G MANE Select NP_000009.1:p.Asn339Asp
NM_001033859.3:c.949A>G NP_001029031.1:p.Asn317Asp
NM_001270447.2:c.1084A>G NP_001257376.1:p.Asn362Asp
NM_001270448.2:c.787A>G NP_001257377.1:p.Asn263Asp
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