Canonical Allele Identifier: CA397724263
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1487315614
gnomAD v2: 17-7126167-G-C
gnomAD v4: 17-7222848-G-C
MyVariant Identifiers: chr17:g.7126167G>C (hg19) chr17:g.7222848G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222848G>C , CM000679.2:g.7222848G>C GRCh38
NC_000017.10:g.7126167G>C , CM000679.1:g.7126167G>C GRCh37
NC_000017.9:g.7066891G>C NCBI36
NG_007975.1:g.8015G>C
NG_008391.2:g.2203C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1060G>C MANE Select ENSP00000349297.5:p.Gly354Arg
ENST00000322910.9:c.*1015G>C ENSP00000325395.5:n.*1015G>C
ENST00000350303.9:c.994G>C ENSP00000344152.5:p.Gly332Arg
ENST00000356839.9:c.1060G>C ENSP00000349297.5:p.Gly354Arg
ENST00000543245.6:c.1129G>C ENSP00000438689.2:p.Gly377Arg
ENST00000578824.5:n.209G>C
ENST00000582379.1:n.444G>C
ENST00000583858.5:c.89G>C
ENST00000585203.6:n.1G>C
NM_000018.3:c.1060G>C NP_000009.1:p.Gly354Arg
NM_001033859.2:c.994G>C NP_001029031.1:p.Gly332Arg
NM_001270447.1:c.1129G>C NP_001257376.1:p.Gly377Arg
NM_001270448.1:c.832G>C NP_001257377.1:p.Gly278Arg
XM_006721516.2:c.1060G>C XP_006721579.2:p.Gly354Arg
XM_011523829.1:c.1060G>C XP_011522131.1:p.Gly354Arg
XM_011523830.1:c.1060G>C XP_011522132.1:p.Gly354Arg
XR_934021.1:n.1167G>C
XR_934022.1:n.1167G>C
XR_934023.1:n.1167G>C
XM_006721516.3:c.1060G>C XP_006721579.2:p.Gly354Arg
XM_011523829.2:c.1060G>C XP_011522131.1:p.Gly354Arg
XM_011523830.2:c.1060G>C XP_011522132.1:p.Gly354Arg
XM_024450741.1:c.1060G>C XP_024306509.1:p.Gly354Arg
XR_934021.2:n.1119G>C
XR_934022.2:n.1119G>C
XR_934023.2:n.1119G>C
NM_000018.4:c.1060G>C MANE Select NP_000009.1:p.Gly354Arg
NM_001033859.3:c.994G>C NP_001029031.1:p.Gly332Arg
NM_001270447.2:c.1129G>C NP_001257376.1:p.Gly377Arg
NM_001270448.2:c.832G>C NP_001257377.1:p.Gly278Arg
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