Canonical Allele Identifier: CA397725239
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224201A>G , CM000679.2:g.7224201A>G GRCh38
NC_000017.10:g.7127520A>G , CM000679.1:g.7127520A>G GRCh37
NC_000017.9:g.7068244A>G NCBI36
NG_007975.1:g.9368A>G
NG_008391.2:g.850T>C
NG_033038.1:g.15344T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1490A>G MANE Select ENSP00000349297.5:p.Asn497Ser
ENST00000322910.9:c.*1445A>G ENSP00000325395.5:n.*1445A>G
ENST00000350303.9:c.1424A>G ENSP00000344152.5:p.Asn475Ser
ENST00000356839.9:c.1490A>G ENSP00000349297.5:p.Asn497Ser
ENST00000542255.6:c.348A>G
ENST00000543245.6:c.1559A>G ENSP00000438689.2:p.Asn520Ser
ENST00000578711.1:n.697A>G
ENST00000579391.1:n.98A>G
ENST00000579425.5:n.606A>G
ENST00000579546.1:c.272-120A>G
ENST00000579894.5:n.277A>G
ENST00000583074.5:n.154-120A>G
ENST00000583850.5:n.265A>G
ENST00000583858.5:c.464-120A>G
ENST00000585203.6:n.681A>G
NM_000018.3:c.1490A>G NP_000009.1:p.Asn497Ser
NM_001033859.2:c.1424A>G NP_001029031.1:p.Asn475Ser
NM_001270447.1:c.1559A>G NP_001257376.1:p.Asn520Ser
NM_001270448.1:c.1262A>G NP_001257377.1:p.Asn421Ser
XM_006721516.2:c.1490A>G XP_006721579.2:p.Asn497Ser
XM_011523829.1:c.1435-120A>G XP_011522131.1:n.1435-120A>G
XM_011523830.1:c.1435-120A>G XP_011522132.1:n.1435-120A>G
XR_934021.1:n.1597A>G
XR_934022.1:n.1542-120A>G
XR_934023.1:n.1542-120A>G
XM_006721516.3:c.1490A>G XP_006721579.2:p.Asn497Ser
XM_011523829.2:c.1435-120A>G XP_011522131.1:n.1435-120A>G
XM_011523830.2:c.1435-120A>G XP_011522132.1:n.1435-120A>G
XM_024450741.1:c.1435-120A>G XP_024306509.1:n.1435-120A>G
XR_934021.2:n.1549A>G
XR_934022.2:n.1494-120A>G
XR_934023.2:n.1494-120A>G
NM_000018.4:c.1490A>G MANE Select NP_000009.1:p.Asn497Ser
NM_001033859.3:c.1424A>G NP_001029031.1:p.Asn475Ser
NM_001270447.2:c.1559A>G NP_001257376.1:p.Asn520Ser
NM_001270448.2:c.1262A>G NP_001257377.1:p.Asn421Ser