Canonical Allele Identifier: CA397725387
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1565G>C MANE Select ENSP00000349297.5:p.Ser522Thr
ENST00000322910.9:c.*1520G>C ENSP00000325395.5:n.*1520G>C
ENST00000350303.9:c.1499G>C ENSP00000344152.5:p.Ser500Thr
ENST00000356839.9:c.1565G>C ENSP00000349297.5:p.Ser522Thr
ENST00000542255.6:c.423G>C
ENST00000543245.6:c.1634G>C ENSP00000438689.2:p.Ser545Thr
ENST00000578319.5:n.60G>C
ENST00000578711.1:n.849G>C
ENST00000578809.5:n.137G>C
ENST00000579391.1:n.173G>C
ENST00000579425.5:n.681G>C
ENST00000579546.1:c.304G>C
ENST00000579894.5:n.352G>C
ENST00000582450.1:n.73G>C
ENST00000583074.5:n.186G>C
ENST00000583850.5:n.340G>C
ENST00000583858.5:c.496G>C
ENST00000585203.6:n.756G>C
NM_000018.3:c.1565G>C NP_000009.1:p.Ser522Thr
NM_001033859.2:c.1499G>C NP_001029031.1:p.Ser500Thr
NM_001270447.1:c.1634G>C NP_001257376.1:p.Ser545Thr
NM_001270448.1:c.1337G>C NP_001257377.1:p.Ser446Thr
XM_006721516.2:c.1565G>C XP_006721579.2:p.Ser522Thr
XM_011523829.1:c.1467G>C XP_011522131.1:p.Gln489His
XM_011523830.1:c.1467G>C XP_011522132.1:p.Gln489His
XR_934021.1:n.1672G>C
XR_934022.1:n.1574G>C
XR_934023.1:n.1574G>C
XM_006721516.3:c.1565G>C XP_006721579.2:p.Ser522Thr
XM_011523829.2:c.1467G>C XP_011522131.1:p.Gln489His
XM_011523830.2:c.1467G>C XP_011522132.1:p.Gln489His
XM_024450741.1:c.1467G>C XP_024306509.1:p.Gln489His
XR_934021.2:n.1624G>C
XR_934022.2:n.1526G>C
XR_934023.2:n.1526G>C
NM_000018.4:c.1565G>C MANE Select NP_000009.1:p.Ser522Thr
NM_001033859.3:c.1499G>C NP_001029031.1:p.Ser500Thr
NM_001270447.2:c.1634G>C NP_001257376.1:p.Ser545Thr
NM_001270448.2:c.1337G>C NP_001257377.1:p.Ser446Thr