Canonical Allele Identifier: CA774745149
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1149025
ClinVar RCV Id: RCV001489105
dbSNP Id: rs1280800189
gnomAD v4: 17-7224137-C-A
MyVariant Identifiers: chr17:g.7127456C>A (hg19) chr17:g.7224137C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224137C>A , CM000679.2:g.7224137C>A GRCh38
NC_000017.10:g.7127456C>A , CM000679.1:g.7127456C>A GRCh37
NC_000017.9:g.7068180C>A NCBI36
NG_007975.1:g.9304C>A
NG_008391.2:g.914G>T
NG_033038.1:g.15408G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1435-9C>A MANE Select ENSP00000349297.5:n.1435-9C>A
ENST00000322910.9:c.*1390-9C>A ENSP00000325395.5:n.*1390-9C>A
ENST00000350303.9:c.1369-9C>A ENSP00000344152.5:n.1369-9C>A
ENST00000356839.9:c.1435-9C>A ENSP00000349297.5:n.1435-9C>A
ENST00000542255.6:c.293-9C>A
ENST00000543245.6:c.1504-9C>A ENSP00000438689.2:n.1504-9C>A
ENST00000578711.1:n.633C>A
ENST00000579391.1:n.34C>A
ENST00000579425.5:n.551-9C>A
ENST00000579546.1:c.271+68C>A
ENST00000579894.5:n.213C>A
ENST00000583074.5:n.153+68C>A
ENST00000583850.5:n.210-9C>A
ENST00000583858.5:c.463+68C>A
ENST00000585203.6:n.626-9C>A
NM_000018.3:c.1435-9C>A NP_000009.1:n.1435-9C>A
NM_001033859.2:c.1369-9C>A NP_001029031.1:n.1369-9C>A
NM_001270447.1:c.1504-9C>A NP_001257376.1:n.1504-9C>A
NM_001270448.1:c.1207-9C>A NP_001257377.1:n.1207-9C>A
XM_006721516.2:c.1435-9C>A XP_006721579.2:n.1435-9C>A
XM_011523829.1:c.1434+68C>A XP_011522131.1:n.1434+68C>A
XM_011523830.1:c.1434+68C>A XP_011522132.1:n.1434+68C>A
XR_934021.1:n.1542-9C>A
XR_934022.1:n.1541+68C>A
XR_934023.1:n.1541+68C>A
XM_006721516.3:c.1435-9C>A XP_006721579.2:n.1435-9C>A
XM_011523829.2:c.1434+68C>A XP_011522131.1:n.1434+68C>A
XM_011523830.2:c.1434+68C>A XP_011522132.1:n.1434+68C>A
XM_024450741.1:c.1434+68C>A XP_024306509.1:n.1434+68C>A
XR_934021.2:n.1494-9C>A
XR_934022.2:n.1493+68C>A
XR_934023.2:n.1493+68C>A
NM_000018.4:c.1435-9C>A MANE Select NP_000009.1:n.1435-9C>A
NM_001033859.3:c.1369-9C>A NP_001029031.1:n.1369-9C>A
NM_001270447.2:c.1504-9C>A NP_001257376.1:n.1504-9C>A
NM_001270448.2:c.1207-9C>A NP_001257377.1:n.1207-9C>A
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