Canonical Allele Identifier: CA397723149
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221612C>G , CM000679.2:g.7221612C>G GRCh38
NC_000017.10:g.7124931C>G , CM000679.1:g.7124931C>G GRCh37
NC_000017.9:g.7065655C>G NCBI36
NG_007975.1:g.6779C>G
NG_008391.2:g.3439G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.552C>G MANE Select ENSP00000349297.5:p.Ile184Met
ENST00000322910.9:c.*507C>G ENSP00000325395.5:n.*507C>G
ENST00000350303.9:c.486C>G ENSP00000344152.5:p.Ile162Met
ENST00000356839.9:c.552C>G ENSP00000349297.5:p.Ile184Met
ENST00000543245.6:c.621C>G ENSP00000438689.2:p.Ile207Met
ENST00000577191.5:n.629C>G
ENST00000577433.5:n.760C>G
ENST00000577857.5:n.368C>G
ENST00000579286.5:n.733C>G
ENST00000579886.2:c.390C>G ENSP00000463246.1:p.Ile130Met
ENST00000580365.1:n.283C>G
ENST00000581378.5:c.270C>G
ENST00000581562.5:n.525-340C>G
ENST00000582166.1:n.533C>G
ENST00000583312.5:c.552C>G ENSP00000467920.1:p.Ile184Met
ENST00000583760.1:n.334C>G
NM_000018.3:c.552C>G NP_000009.1:p.Ile184Met
NM_001033859.2:c.486C>G NP_001029031.1:p.Ile162Met
NM_001270447.1:c.621C>G NP_001257376.1:p.Ile207Met
NM_001270448.1:c.324C>G NP_001257377.1:p.Ile108Met
XM_006721516.2:c.552C>G XP_006721579.2:p.Ile184Met
XM_011523829.1:c.552C>G XP_011522131.1:p.Ile184Met
XM_011523830.1:c.552C>G XP_011522132.1:p.Ile184Met
XR_934021.1:n.659C>G
XR_934022.1:n.659C>G
XR_934023.1:n.659C>G
XM_006721516.3:c.552C>G XP_006721579.2:p.Ile184Met
XM_011523829.2:c.552C>G XP_011522131.1:p.Ile184Met
XM_011523830.2:c.552C>G XP_011522132.1:p.Ile184Met
XM_024450741.1:c.552C>G XP_024306509.1:p.Ile184Met
XR_934021.2:n.611C>G
XR_934022.2:n.611C>G
XR_934023.2:n.611C>G
NM_000018.4:c.552C>G MANE Select NP_000009.1:p.Ile184Met
NM_001033859.3:c.486C>G NP_001029031.1:p.Ile162Met
NM_001270447.2:c.621C>G NP_001257376.1:p.Ile207Met
NM_001270448.2:c.324C>G NP_001257377.1:p.Ile108Met