Canonical Allele Identifier: CA397725601
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224539G>T , CM000679.2:g.7224539G>T GRCh38
NC_000017.10:g.7127858G>T , CM000679.1:g.7127858G>T GRCh37
NC_000017.9:g.7068582G>T NCBI36
NG_007975.1:g.9706G>T
NG_008391.2:g.512C>A
NG_033038.1:g.15006C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1665G>T MANE Select ENSP00000349297.5:p.Lys555Asn
ENST00000322910.9:c.*1620G>T ENSP00000325395.5:n.*1620G>T
ENST00000350303.9:c.1599G>T ENSP00000344152.5:p.Lys533Asn
ENST00000356839.9:c.1665G>T ENSP00000349297.5:p.Lys555Asn
ENST00000542255.6:c.523G>T
ENST00000543245.6:c.1734G>T ENSP00000438689.2:p.Lys578Asn
ENST00000578319.5:n.246G>T
ENST00000578711.1:n.1035G>T
ENST00000578809.5:n.237G>T
ENST00000579391.1:n.269G>T
ENST00000579425.5:n.781G>T
ENST00000579546.1:c.400G>T
ENST00000582450.1:n.173G>T
ENST00000583074.5:n.286G>T
ENST00000583848.5:c.51G>T ENSP00000466487.1:p.Lys17Asn
ENST00000583850.5:n.436G>T
ENST00000583858.5:c.596G>T
ENST00000585203.6:n.856G>T
NM_000018.3:c.1665G>T NP_000009.1:p.Lys555Asn
NM_001033859.2:c.1599G>T NP_001029031.1:p.Lys533Asn
NM_001270447.1:c.1734G>T NP_001257376.1:p.Lys578Asn
NM_001270448.1:c.1437G>T NP_001257377.1:p.Lys479Asn
XM_006721516.2:c.1665G>T XP_006721579.2:p.Lys555Asn
XM_011523829.1:c.1563G>T XP_011522131.1:p.Lys521Asn
XM_011523830.1:c.1563G>T XP_011522132.1:p.Lys521Asn
XR_934021.1:n.1768G>T
XR_934022.1:n.1674G>T
XR_934023.1:n.1674G>T
XM_006721516.3:c.1665G>T XP_006721579.2:p.Lys555Asn
XM_011523829.2:c.1563G>T XP_011522131.1:p.Lys521Asn
XM_011523830.2:c.1563G>T XP_011522132.1:p.Lys521Asn
XM_024450741.1:c.1653G>T XP_024306509.1:p.Lys551Asn
XR_934021.2:n.1720G>T
XR_934022.2:n.1626G>T
XR_934023.2:n.1626G>T
NM_000018.4:c.1665G>T MANE Select NP_000009.1:p.Lys555Asn
NM_001033859.3:c.1599G>T NP_001029031.1:p.Lys533Asn
NM_001270447.2:c.1734G>T NP_001257376.1:p.Lys578Asn
NM_001270448.2:c.1437G>T NP_001257377.1:p.Lys479Asn