Canonical Allele Identifier: CA397725607
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224541A>G , CM000679.2:g.7224541A>G GRCh38
NC_000017.10:g.7127860A>G , CM000679.1:g.7127860A>G GRCh37
NC_000017.9:g.7068584A>G NCBI36
NG_007975.1:g.9708A>G
NG_008391.2:g.510T>C
NG_033038.1:g.15004T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1667A>G MANE Select ENSP00000349297.5:p.Lys556Arg
ENST00000322910.9:c.*1622A>G ENSP00000325395.5:n.*1622A>G
ENST00000350303.9:c.1601A>G ENSP00000344152.5:p.Lys534Arg
ENST00000356839.9:c.1667A>G ENSP00000349297.5:p.Lys556Arg
ENST00000542255.6:c.525A>G
ENST00000543245.6:c.1736A>G ENSP00000438689.2:p.Lys579Arg
ENST00000578319.5:n.248A>G
ENST00000578711.1:n.1037A>G
ENST00000578809.5:n.239A>G
ENST00000579391.1:n.271A>G
ENST00000579425.5:n.783A>G
ENST00000579546.1:c.402A>G
ENST00000582450.1:n.175A>G
ENST00000583074.5:n.288A>G
ENST00000583848.5:c.53A>G ENSP00000466487.1:p.Lys18Arg
ENST00000583850.5:n.438A>G
ENST00000583858.5:c.598A>G
ENST00000585203.6:n.858A>G
NM_000018.3:c.1667A>G NP_000009.1:p.Lys556Arg
NM_001033859.2:c.1601A>G NP_001029031.1:p.Lys534Arg
NM_001270447.1:c.1736A>G NP_001257376.1:p.Lys579Arg
NM_001270448.1:c.1439A>G NP_001257377.1:p.Lys480Arg
XM_006721516.2:c.1667A>G XP_006721579.2:p.Lys556Arg
XM_011523829.1:c.1565A>G XP_011522131.1:p.Lys522Arg
XM_011523830.1:c.1565A>G XP_011522132.1:p.Lys522Arg
XR_934021.1:n.1770A>G
XR_934022.1:n.1676A>G
XR_934023.1:n.1676A>G
XM_006721516.3:c.1667A>G XP_006721579.2:p.Lys556Arg
XM_011523829.2:c.1565A>G XP_011522131.1:p.Lys522Arg
XM_011523830.2:c.1565A>G XP_011522132.1:p.Lys522Arg
XM_024450741.1:c.1655A>G XP_024306509.1:p.Lys552Arg
XR_934021.2:n.1722A>G
XR_934022.2:n.1628A>G
XR_934023.2:n.1628A>G
NM_000018.4:c.1667A>G MANE Select NP_000009.1:p.Lys556Arg
NM_001033859.3:c.1601A>G NP_001029031.1:p.Lys534Arg
NM_001270447.2:c.1736A>G NP_001257376.1:p.Lys579Arg
NM_001270448.2:c.1439A>G NP_001257377.1:p.Lys480Arg