Canonical Allele Identifier: CA2697559356
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2741142
ClinVar RCV Id: RCV003497540

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224631C>G , CM000679.2:g.7224631C>G GRCh38
NC_000017.10:g.7127950C>G , CM000679.1:g.7127950C>G GRCh37
NC_000017.9:g.7068674C>G NCBI36
NG_007975.1:g.9798C>G
NG_008391.2:g.420G>C
NG_033038.1:g.14914G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1679-11C>G MANE Select ENSP00000349297.5:n.1679-11C>G
ENST00000322910.9:c.*1634-11C>G ENSP00000325395.5:n.*1634-11C>G
ENST00000350303.9:c.1613-11C>G ENSP00000344152.5:n.1613-11C>G
ENST00000356839.9:c.1679-11C>G ENSP00000349297.5:n.1679-11C>G
ENST00000542255.6:c.536+79C>G
ENST00000543245.6:c.1748-11C>G ENSP00000438689.2:n.1748-11C>G
ENST00000578319.5:n.260-11C>G
ENST00000578711.1:n.1127C>G
ENST00000578809.5:n.251-11C>G
ENST00000579425.5:n.795-11C>G
ENST00000579546.1:c.414-11C>G
ENST00000582450.1:n.265C>G
ENST00000583074.5:n.299+79C>G
ENST00000583848.5:c.65-31C>G ENSP00000466487.1:n.65-31C>G
ENST00000583850.5:n.450-11C>G
ENST00000583858.5:c.610-11C>G
ENST00000585203.6:n.870-11C>G
NM_000018.3:c.1679-11C>G NP_000009.1:n.1679-11C>G
NM_001033859.2:c.1613-11C>G NP_001029031.1:n.1613-11C>G
NM_001270447.1:c.1748-11C>G NP_001257376.1:n.1748-11C>G
NM_001270448.1:c.1451-11C>G NP_001257377.1:n.1451-11C>G
XM_006721516.2:c.1678+79C>G XP_006721579.2:n.1678+79C>G
XM_011523829.1:c.1576+79C>G XP_011522131.1:n.1576+79C>G
XM_011523830.1:c.1577-11C>G XP_011522132.1:n.1577-11C>G
XR_934021.1:n.1782-11C>G
XR_934022.1:n.1688-11C>G
XR_934023.1:n.1687+79C>G
XM_006721516.3:c.1678+79C>G XP_006721579.2:n.1678+79C>G
XM_011523829.2:c.1576+79C>G XP_011522131.1:n.1576+79C>G
XM_011523830.2:c.1577-11C>G XP_011522132.1:n.1577-11C>G
XM_024450741.1:c.1667-11C>G XP_024306509.1:n.1667-11C>G
XR_934021.2:n.1734-11C>G
XR_934022.2:n.1640-11C>G
XR_934023.2:n.1639+79C>G
NM_000018.4:c.1679-11C>G MANE Select NP_000009.1:n.1679-11C>G
NM_001033859.3:c.1613-11C>G NP_001029031.1:n.1613-11C>G
NM_001270447.2:c.1748-11C>G NP_001257376.1:n.1748-11C>G
NM_001270448.2:c.1451-11C>G NP_001257377.1:n.1451-11C>G