Canonical Allele Identifier: CA287435750
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs188520133
gnomAD v3: 17-7221214-A-G
gnomAD v4: 17-7221214-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221214A>G , CM000679.2:g.7221214A>G GRCh38
NC_000017.10:g.7124533A>G , CM000679.1:g.7124533A>G GRCh37
NC_000017.9:g.7065257A>G NCBI36
NG_007975.1:g.6381A>G
NG_008391.2:g.3837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.477+156A>G MANE Select ENSP00000349297.5:n.477+156A>G
ENST00000322910.9:c.*432+156A>G ENSP00000325395.5:n.*432+156A>G
ENST00000350303.9:c.411+156A>G ENSP00000344152.5:n.411+156A>G
ENST00000356839.9:c.477+156A>G ENSP00000349297.5:n.477+156A>G
ENST00000543245.6:c.546+156A>G ENSP00000438689.2:n.546+156A>G
ENST00000577191.5:n.554+156A>G
ENST00000577433.5:n.685+156A>G
ENST00000577857.5:n.294-324A>G
ENST00000579286.5:n.658+156A>G
ENST00000579886.2:c.315+156A>G ENSP00000463246.1:n.315+156A>G
ENST00000580365.1:n.208+156A>G
ENST00000581378.5:c.176+156A>G
ENST00000581562.5:n.524+156A>G
ENST00000582166.1:n.458+156A>G
ENST00000583312.5:c.477+156A>G ENSP00000467920.1:n.477+156A>G
NM_000018.3:c.477+156A>G NP_000009.1:n.477+156A>G
NM_001033859.2:c.411+156A>G NP_001029031.1:n.411+156A>G
NM_001270447.1:c.546+156A>G NP_001257376.1:n.546+156A>G
NM_001270448.1:c.249+156A>G NP_001257377.1:n.249+156A>G
XM_006721516.2:c.477+156A>G XP_006721579.2:n.477+156A>G
XM_011523829.1:c.477+156A>G XP_011522131.1:n.477+156A>G
XM_011523830.1:c.477+156A>G XP_011522132.1:n.477+156A>G
XR_934021.1:n.584+156A>G
XR_934022.1:n.584+156A>G
XR_934023.1:n.584+156A>G
XM_006721516.3:c.477+156A>G XP_006721579.2:n.477+156A>G
XM_011523829.2:c.477+156A>G XP_011522131.1:n.477+156A>G
XM_011523830.2:c.477+156A>G XP_011522132.1:n.477+156A>G
XM_024450741.1:c.477+156A>G XP_024306509.1:n.477+156A>G
XR_934021.2:n.536+156A>G
XR_934022.2:n.536+156A>G
XR_934023.2:n.536+156A>G
NM_000018.4:c.477+156A>G MANE Select NP_000009.1:n.477+156A>G
NM_001033859.3:c.411+156A>G NP_001029031.1:n.411+156A>G
NM_001270447.2:c.546+156A>G NP_001257376.1:n.546+156A>G
NM_001270448.2:c.249+156A>G NP_001257377.1:n.249+156A>G