Canonical Allele Identifier: CA397725375
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224348T>A , CM000679.2:g.7224348T>A GRCh38
NC_000017.10:g.7127667T>A , CM000679.1:g.7127667T>A GRCh37
NC_000017.9:g.7068391T>A NCBI36
NG_007975.1:g.9515T>A
NG_008391.2:g.703A>T
NG_033038.1:g.15197A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1560T>A MANE Select ENSP00000349297.5:p.Ser520Arg
ENST00000322910.9:c.*1515T>A ENSP00000325395.5:n.*1515T>A
ENST00000350303.9:c.1494T>A ENSP00000344152.5:p.Ser498Arg
ENST00000356839.9:c.1560T>A ENSP00000349297.5:p.Ser520Arg
ENST00000542255.6:c.418T>A
ENST00000543245.6:c.1629T>A ENSP00000438689.2:p.Ser543Arg
ENST00000578319.5:n.55T>A
ENST00000578711.1:n.844T>A
ENST00000578809.5:n.132T>A
ENST00000579391.1:n.168T>A
ENST00000579425.5:n.676T>A
ENST00000579546.1:c.299T>A
ENST00000579894.5:n.347T>A
ENST00000582450.1:n.68T>A
ENST00000583074.5:n.181T>A
ENST00000583850.5:n.335T>A
ENST00000583858.5:c.491T>A
ENST00000585203.6:n.751T>A
NM_000018.3:c.1560T>A NP_000009.1:p.Ser520Arg
NM_001033859.2:c.1494T>A NP_001029031.1:p.Ser498Arg
NM_001270447.1:c.1629T>A NP_001257376.1:p.Ser543Arg
NM_001270448.1:c.1332T>A NP_001257377.1:p.Ser444Arg
XM_006721516.2:c.1560T>A XP_006721579.2:p.Ser520Arg
XM_011523829.1:c.1462T>A XP_011522131.1:p.Ser488Thr
XM_011523830.1:c.1462T>A XP_011522132.1:p.Ser488Thr
XR_934021.1:n.1667T>A
XR_934022.1:n.1569T>A
XR_934023.1:n.1569T>A
XM_006721516.3:c.1560T>A XP_006721579.2:p.Ser520Arg
XM_011523829.2:c.1462T>A XP_011522131.1:p.Ser488Thr
XM_011523830.2:c.1462T>A XP_011522132.1:p.Ser488Thr
XM_024450741.1:c.1462T>A XP_024306509.1:p.Ser488Thr
XR_934021.2:n.1619T>A
XR_934022.2:n.1521T>A
XR_934023.2:n.1521T>A
NM_000018.4:c.1560T>A MANE Select NP_000009.1:p.Ser520Arg
NM_001033859.3:c.1494T>A NP_001029031.1:p.Ser498Arg
NM_001270447.2:c.1629T>A NP_001257376.1:p.Ser543Arg
NM_001270448.2:c.1332T>A NP_001257377.1:p.Ser444Arg