Canonical Allele Identifier: CA397724823
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1187934147
gnomAD v2: 17-7127166-A-G
gnomAD v4: 17-7223847-A-G
MyVariant Identifiers: chr17:g.7127166A>G (hg19) chr17:g.7223847A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223847A>G , CM000679.2:g.7223847A>G GRCh38
NC_000017.10:g.7127166A>G , CM000679.1:g.7127166A>G GRCh37
NC_000017.9:g.7067890A>G NCBI36
NG_007975.1:g.9014A>G
NG_008391.2:g.1204T>C
NG_033038.1:g.15698T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1304A>G MANE Select ENSP00000349297.5:p.Gln435Arg
ENST00000322910.9:c.*1259A>G ENSP00000325395.5:n.*1259A>G
ENST00000350303.9:c.1238A>G ENSP00000344152.5:p.Gln413Arg
ENST00000356839.9:c.1304A>G ENSP00000349297.5:p.Gln435Arg
ENST00000542255.6:c.162A>G
ENST00000543245.6:c.1373A>G ENSP00000438689.2:p.Gln458Arg
ENST00000578711.1:n.343A>G
ENST00000578824.5:n.720A>G
ENST00000579425.5:n.328A>G
ENST00000579546.1:c.141A>G
ENST00000583074.5:n.23A>G
ENST00000583850.5:n.79A>G
ENST00000583858.5:c.333A>G
ENST00000585203.6:n.512A>G
NM_000018.3:c.1304A>G NP_000009.1:p.Gln435Arg
NM_001033859.2:c.1238A>G NP_001029031.1:p.Gln413Arg
NM_001270447.1:c.1373A>G NP_001257376.1:p.Gln458Arg
NM_001270448.1:c.1076A>G NP_001257377.1:p.Gln359Arg
XM_006721516.2:c.1304A>G XP_006721579.2:p.Gln435Arg
XM_011523829.1:c.1304A>G XP_011522131.1:p.Gln435Arg
XM_011523830.1:c.1304A>G XP_011522132.1:p.Gln435Arg
XR_934021.1:n.1411A>G
XR_934022.1:n.1411A>G
XR_934023.1:n.1411A>G
XM_006721516.3:c.1304A>G XP_006721579.2:p.Gln435Arg
XM_011523829.2:c.1304A>G XP_011522131.1:p.Gln435Arg
XM_011523830.2:c.1304A>G XP_011522132.1:p.Gln435Arg
XM_024450741.1:c.1304A>G XP_024306509.1:p.Gln435Arg
XR_934021.2:n.1363A>G
XR_934022.2:n.1363A>G
XR_934023.2:n.1363A>G
NM_000018.4:c.1304A>G MANE Select NP_000009.1:p.Gln435Arg
NM_001033859.3:c.1238A>G NP_001029031.1:p.Gln413Arg
NM_001270447.2:c.1373A>G NP_001257376.1:p.Gln458Arg
NM_001270448.2:c.1076A>G NP_001257377.1:p.Gln359Arg
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