Canonical Allele Identifier: CA397725643
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224642A>G , CM000679.2:g.7224642A>G GRCh38
NC_000017.10:g.7127961A>G , CM000679.1:g.7127961A>G GRCh37
NC_000017.9:g.7068685A>G NCBI36
NG_007975.1:g.9809A>G
NG_008391.2:g.409T>C
NG_033038.1:g.14903T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1679A>G MANE Select ENSP00000349297.5:p.Asn560Ser
ENST00000322910.9:c.*1634A>G ENSP00000325395.5:n.*1634A>G
ENST00000350303.9:c.1613A>G ENSP00000344152.5:p.Asn538Ser
ENST00000356839.9:c.1679A>G ENSP00000349297.5:p.Asn560Ser
ENST00000542255.6:c.537-73A>G
ENST00000543245.6:c.1748A>G ENSP00000438689.2:p.Asn583Ser
ENST00000578033.1:n.10A>G
ENST00000578319.5:n.260A>G
ENST00000578711.1:n.1138A>G
ENST00000578809.5:n.251A>G
ENST00000579425.5:n.795A>G
ENST00000579546.1:c.414A>G
ENST00000582450.1:n.276A>G
ENST00000583074.5:n.300-73A>G
ENST00000583848.5:c.65-20A>G ENSP00000466487.1:n.65-20A>G
ENST00000583850.5:n.450A>G
ENST00000583858.5:c.610A>G
ENST00000585203.6:n.870A>G
NM_000018.3:c.1679A>G NP_000009.1:p.Asn560Ser
NM_001033859.2:c.1613A>G NP_001029031.1:p.Asn538Ser
NM_001270447.1:c.1748A>G NP_001257376.1:p.Asn583Ser
NM_001270448.1:c.1451A>G NP_001257377.1:p.Asn484Ser
XM_006721516.2:c.1679-73A>G XP_006721579.2:n.1679-73A>G
XM_011523829.1:c.1577-73A>G XP_011522131.1:n.1577-73A>G
XM_011523830.1:c.1577A>G XP_011522132.1:p.Asn526Ser
XR_934021.1:n.1782A>G
XR_934022.1:n.1688A>G
XR_934023.1:n.1688-73A>G
XM_006721516.3:c.1679-73A>G XP_006721579.2:n.1679-73A>G
XM_011523829.2:c.1577-73A>G XP_011522131.1:n.1577-73A>G
XM_011523830.2:c.1577A>G XP_011522132.1:p.Asn526Ser
XM_024450741.1:c.1667A>G XP_024306509.1:p.Asn556Ser
XR_934021.2:n.1734A>G
XR_934022.2:n.1640A>G
XR_934023.2:n.1640-73A>G
NM_000018.4:c.1679A>G MANE Select NP_000009.1:p.Asn560Ser
NM_001033859.3:c.1613A>G NP_001029031.1:p.Asn538Ser
NM_001270447.2:c.1748A>G NP_001257376.1:p.Asn583Ser
NM_001270448.2:c.1451A>G NP_001257377.1:p.Asn484Ser