Canonical Allele Identifier: CA8338138
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1043867
ClinVar RCV Id: RCV001348036
dbSNP Id: rs749332311
ExAC: 17:7127554 G / C
gnomAD v2: 17-7127554-G-C
gnomAD v4: 17-7224235-G-C
MyVariant Identifiers: chr17:g.7127554G>C (hg19) chr17:g.7224235G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224235G>C , CM000679.2:g.7224235G>C GRCh38
NC_000017.10:g.7127554G>C , CM000679.1:g.7127554G>C GRCh37
NC_000017.9:g.7068278G>C NCBI36
NG_007975.1:g.9402G>C
NG_008391.2:g.816C>G
NG_033038.1:g.15310C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1524G>C MANE Select ENSP00000349297.5:p.Gln508His
ENST00000322910.9:c.*1479G>C ENSP00000325395.5:n.*1479G>C
ENST00000350303.9:c.1458G>C ENSP00000344152.5:p.Gln486His
ENST00000356839.9:c.1524G>C ENSP00000349297.5:p.Gln508His
ENST00000542255.6:c.382G>C
ENST00000543245.6:c.1593G>C ENSP00000438689.2:p.Gln531His
ENST00000578319.5:n.19G>C
ENST00000578711.1:n.731G>C
ENST00000578809.5:n.19G>C
ENST00000579391.1:n.132G>C
ENST00000579425.5:n.640G>C
ENST00000579546.1:c.272-86G>C
ENST00000579894.5:n.311G>C
ENST00000583074.5:n.154-86G>C
ENST00000583850.5:n.299G>C
ENST00000583858.5:c.464-86G>C
ENST00000585203.6:n.715G>C
NM_000018.3:c.1524G>C NP_000009.1:p.Gln508His
NM_001033859.2:c.1458G>C NP_001029031.1:p.Gln486His
NM_001270447.1:c.1593G>C NP_001257376.1:p.Gln531His
NM_001270448.1:c.1296G>C NP_001257377.1:p.Gln432His
XM_006721516.2:c.1524G>C XP_006721579.2:p.Gln508His
XM_011523829.1:c.1435-86G>C XP_011522131.1:n.1435-86G>C
XM_011523830.1:c.1435-86G>C XP_011522132.1:n.1435-86G>C
XR_934021.1:n.1631G>C
XR_934022.1:n.1542-86G>C
XR_934023.1:n.1542-86G>C
XM_006721516.3:c.1524G>C XP_006721579.2:p.Gln508His
XM_011523829.2:c.1435-86G>C XP_011522131.1:n.1435-86G>C
XM_011523830.2:c.1435-86G>C XP_011522132.1:n.1435-86G>C
XM_024450741.1:c.1435-86G>C XP_024306509.1:n.1435-86G>C
XR_934021.2:n.1583G>C
XR_934022.2:n.1494-86G>C
XR_934023.2:n.1494-86G>C
NM_000018.4:c.1524G>C MANE Select NP_000009.1:p.Gln508His
NM_001033859.3:c.1458G>C NP_001029031.1:p.Gln486His
NM_001270447.2:c.1593G>C NP_001257376.1:p.Gln531His
NM_001270448.2:c.1296G>C NP_001257377.1:p.Gln432His
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