Canonical Allele Identifier: CA8338291
Gene: ACADVL HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224953C>G , CM000679.2:g.7224953C>G GRCh38
NC_000017.10:g.7128272C>G , CM000679.1:g.7128272C>G GRCh37
NC_000017.9:g.7068996C>G NCBI36
NG_007975.1:g.10120C>G
NG_008391.2:g.98G>C
NG_033038.1:g.14592G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1828-4C>G MANE Select ENSP00000349297.5:n.1828-4C>G
ENST00000322910.9:c.*1783-4C>G ENSP00000325395.5:n.*1783-4C>G
ENST00000350303.9:c.1762-4C>G ENSP00000344152.5:n.1762-4C>G
ENST00000356839.9:c.1828-4C>G ENSP00000349297.5:n.1828-4C>G
ENST00000542255.6:c.707-4C>G
ENST00000543245.6:c.1897-4C>G ENSP00000438689.2:n.1897-4C>G
ENST00000578033.1:n.253-4C>G
ENST00000578319.5:n.409-4C>G
ENST00000578711.1:n.1449C>G
ENST00000578809.5:n.400-4C>G
ENST00000579425.5:n.944-4C>G
ENST00000579546.1:c.563-4C>G
ENST00000583848.5:c.194-4C>G ENSP00000466487.1:n.194-4C>G
ENST00000583850.5:n.599-4C>G
ENST00000583858.5:c.759-4C>G
NM_000018.3:c.1828-4C>G NP_000009.1:n.1828-4C>G
NM_001033859.2:c.1762-4C>G NP_001029031.1:n.1762-4C>G
NM_001270447.1:c.1897-4C>G NP_001257376.1:n.1897-4C>G
NM_001270448.1:c.1600-4C>G NP_001257377.1:n.1600-4C>G
XM_006721516.2:c.1849-4C>G XP_006721579.2:n.1849-4C>G
XM_011523829.1:c.1747-4C>G XP_011522131.1:n.1747-4C>G
XM_011523830.1:c.1726-4C>G XP_011522132.1:n.1726-4C>G
XR_934021.1:n.1931-4C>G
XR_934022.1:n.1837-4C>G
XR_934023.1:n.1858-4C>G
XM_006721516.3:c.1849-4C>G XP_006721579.2:n.1849-4C>G
XM_011523829.2:c.1747-4C>G XP_011522131.1:n.1747-4C>G
XM_011523830.2:c.1726-4C>G XP_011522132.1:n.1726-4C>G
XM_024450741.1:c.1816-4C>G XP_024306509.1:n.1816-4C>G
XR_934021.2:n.1883-4C>G
XR_934022.2:n.1789-4C>G
XR_934023.2:n.1810-4C>G
NM_000018.4:c.1828-4C>G MANE Select NP_000009.1:n.1828-4C>G
NM_001033859.3:c.1762-4C>G NP_001029031.1:n.1762-4C>G
NM_001270447.2:c.1897-4C>G NP_001257376.1:n.1897-4C>G
NM_001270448.2:c.1600-4C>G NP_001257377.1:n.1600-4C>G