Canonical Allele Identifier: CA397725386
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224353-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224353G>A , CM000679.2:g.7224353G>A GRCh38
NC_000017.10:g.7127672G>A , CM000679.1:g.7127672G>A GRCh37
NC_000017.9:g.7068396G>A NCBI36
NG_007975.1:g.9520G>A
NG_008391.2:g.698C>T
NG_033038.1:g.15192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1565G>A MANE Select ENSP00000349297.5:p.Ser522Asn
ENST00000322910.9:c.*1520G>A ENSP00000325395.5:n.*1520G>A
ENST00000350303.9:c.1499G>A ENSP00000344152.5:p.Ser500Asn
ENST00000356839.9:c.1565G>A ENSP00000349297.5:p.Ser522Asn
ENST00000542255.6:c.423G>A
ENST00000543245.6:c.1634G>A ENSP00000438689.2:p.Ser545Asn
ENST00000578319.5:n.60G>A
ENST00000578711.1:n.849G>A
ENST00000578809.5:n.137G>A
ENST00000579391.1:n.173G>A
ENST00000579425.5:n.681G>A
ENST00000579546.1:c.304G>A
ENST00000579894.5:n.352G>A
ENST00000582450.1:n.73G>A
ENST00000583074.5:n.186G>A
ENST00000583850.5:n.340G>A
ENST00000583858.5:c.496G>A
ENST00000585203.6:n.756G>A
NM_000018.3:c.1565G>A NP_000009.1:p.Ser522Asn
NM_001033859.2:c.1499G>A NP_001029031.1:p.Ser500Asn
NM_001270447.1:c.1634G>A NP_001257376.1:p.Ser545Asn
NM_001270448.1:c.1337G>A NP_001257377.1:p.Ser446Asn
XM_006721516.2:c.1565G>A XP_006721579.2:p.Ser522Asn
XM_011523829.1:c.1467G>A XP_011522131.1:p.Gln489=
XM_011523830.1:c.1467G>A XP_011522132.1:p.Gln489=
XR_934021.1:n.1672G>A
XR_934022.1:n.1574G>A
XR_934023.1:n.1574G>A
XM_006721516.3:c.1565G>A XP_006721579.2:p.Ser522Asn
XM_011523829.2:c.1467G>A XP_011522131.1:p.Gln489=
XM_011523830.2:c.1467G>A XP_011522132.1:p.Gln489=
XM_024450741.1:c.1467G>A XP_024306509.1:p.Gln489=
XR_934021.2:n.1624G>A
XR_934022.2:n.1526G>A
XR_934023.2:n.1526G>A
NM_000018.4:c.1565G>A MANE Select NP_000009.1:p.Ser522Asn
NM_001033859.3:c.1499G>A NP_001029031.1:p.Ser500Asn
NM_001270447.2:c.1634G>A NP_001257376.1:p.Ser545Asn
NM_001270448.2:c.1337G>A NP_001257377.1:p.Ser446Asn