Canonical Allele Identifier: CA397725646
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224643T>G , CM000679.2:g.7224643T>G GRCh38
NC_000017.10:g.7127962T>G , CM000679.1:g.7127962T>G GRCh37
NC_000017.9:g.7068686T>G NCBI36
NG_007975.1:g.9810T>G
NG_008391.2:g.408A>C
NG_033038.1:g.14902A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1680T>G MANE Select ENSP00000349297.5:p.Asn560Lys
ENST00000322910.9:c.*1635T>G ENSP00000325395.5:n.*1635T>G
ENST00000350303.9:c.1614T>G ENSP00000344152.5:p.Asn538Lys
ENST00000356839.9:c.1680T>G ENSP00000349297.5:p.Asn560Lys
ENST00000542255.6:c.537-72T>G
ENST00000543245.6:c.1749T>G ENSP00000438689.2:p.Asn583Lys
ENST00000578033.1:n.11T>G
ENST00000578319.5:n.261T>G
ENST00000578711.1:n.1139T>G
ENST00000578809.5:n.252T>G
ENST00000579425.5:n.796T>G
ENST00000579546.1:c.415T>G
ENST00000582450.1:n.277T>G
ENST00000583074.5:n.300-72T>G
ENST00000583848.5:c.65-19T>G ENSP00000466487.1:n.65-19T>G
ENST00000583850.5:n.451T>G
ENST00000583858.5:c.611T>G
ENST00000585203.6:n.871T>G
NM_000018.3:c.1680T>G NP_000009.1:p.Asn560Lys
NM_001033859.2:c.1614T>G NP_001029031.1:p.Asn538Lys
NM_001270447.1:c.1749T>G NP_001257376.1:p.Asn583Lys
NM_001270448.1:c.1452T>G NP_001257377.1:p.Asn484Lys
XM_006721516.2:c.1679-72T>G XP_006721579.2:n.1679-72T>G
XM_011523829.1:c.1577-72T>G XP_011522131.1:n.1577-72T>G
XM_011523830.1:c.1578T>G XP_011522132.1:p.Asn526Lys
XR_934021.1:n.1783T>G
XR_934022.1:n.1689T>G
XR_934023.1:n.1688-72T>G
XM_006721516.3:c.1679-72T>G XP_006721579.2:n.1679-72T>G
XM_011523829.2:c.1577-72T>G XP_011522131.1:n.1577-72T>G
XM_011523830.2:c.1578T>G XP_011522132.1:p.Asn526Lys
XM_024450741.1:c.1668T>G XP_024306509.1:p.Asn556Lys
XR_934021.2:n.1735T>G
XR_934022.2:n.1641T>G
XR_934023.2:n.1640-72T>G
NM_000018.4:c.1680T>G MANE Select NP_000009.1:p.Asn560Lys
NM_001033859.3:c.1614T>G NP_001029031.1:p.Asn538Lys
NM_001270447.2:c.1749T>G NP_001257376.1:p.Asn583Lys
NM_001270448.2:c.1452T>G NP_001257377.1:p.Asn484Lys