Canonical Allele Identifier: CA397724660
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071339337
gnomAD v3: 17-7223696-A-G
gnomAD v4: 17-7223696-A-G
MyVariant Identifiers: chr17:g.7127015A>G (hg19) chr17:g.7223696A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223696A>G , CM000679.2:g.7223696A>G GRCh38
NC_000017.10:g.7127015A>G , CM000679.1:g.7127015A>G GRCh37
NC_000017.9:g.7067739A>G NCBI36
NG_007975.1:g.8863A>G
NG_008391.2:g.1355T>C
NG_033038.1:g.15849T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1235A>G MANE Select ENSP00000349297.5:p.Gln412Arg
ENST00000322910.9:c.*1190A>G ENSP00000325395.5:n.*1190A>G
ENST00000350303.9:c.1169A>G ENSP00000344152.5:p.Gln390Arg
ENST00000356839.9:c.1235A>G ENSP00000349297.5:p.Gln412Arg
ENST00000542255.6:c.93A>G
ENST00000543245.6:c.1304A>G ENSP00000438689.2:p.Gln435Arg
ENST00000578579.2:n.406A>G
ENST00000578711.1:n.192A>G
ENST00000578824.5:n.651A>G
ENST00000579425.5:n.259A>G
ENST00000579546.1:c.72A>G
ENST00000583850.5:n.10A>G
ENST00000583858.5:c.264A>G
ENST00000585203.6:n.443A>G
NM_000018.3:c.1235A>G NP_000009.1:p.Gln412Arg
NM_001033859.2:c.1169A>G NP_001029031.1:p.Gln390Arg
NM_001270447.1:c.1304A>G NP_001257376.1:p.Gln435Arg
NM_001270448.1:c.1007A>G NP_001257377.1:p.Gln336Arg
XM_006721516.2:c.1235A>G XP_006721579.2:p.Gln412Arg
XM_011523829.1:c.1235A>G XP_011522131.1:p.Gln412Arg
XM_011523830.1:c.1235A>G XP_011522132.1:p.Gln412Arg
XR_934021.1:n.1342A>G
XR_934022.1:n.1342A>G
XR_934023.1:n.1342A>G
XM_006721516.3:c.1235A>G XP_006721579.2:p.Gln412Arg
XM_011523829.2:c.1235A>G XP_011522131.1:p.Gln412Arg
XM_011523830.2:c.1235A>G XP_011522132.1:p.Gln412Arg
XM_024450741.1:c.1235A>G XP_024306509.1:p.Gln412Arg
XR_934021.2:n.1294A>G
XR_934022.2:n.1294A>G
XR_934023.2:n.1294A>G
NM_000018.4:c.1235A>G MANE Select NP_000009.1:p.Gln412Arg
NM_001033859.3:c.1169A>G NP_001029031.1:p.Gln390Arg
NM_001270447.2:c.1304A>G NP_001257376.1:p.Gln435Arg
NM_001270448.2:c.1007A>G NP_001257377.1:p.Gln336Arg
Search 100 bp 5'
Search 100 bp 3'