Canonical Allele Identifier: CA397725376
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1560T>G MANE Select ENSP00000349297.5:p.Ser520Arg
ENST00000322910.9:c.*1515T>G ENSP00000325395.5:n.*1515T>G
ENST00000350303.9:c.1494T>G ENSP00000344152.5:p.Ser498Arg
ENST00000356839.9:c.1560T>G ENSP00000349297.5:p.Ser520Arg
ENST00000542255.6:c.418T>G
ENST00000543245.6:c.1629T>G ENSP00000438689.2:p.Ser543Arg
ENST00000578319.5:n.55T>G
ENST00000578711.1:n.844T>G
ENST00000578809.5:n.132T>G
ENST00000579391.1:n.168T>G
ENST00000579425.5:n.676T>G
ENST00000579546.1:c.299T>G
ENST00000579894.5:n.347T>G
ENST00000582450.1:n.68T>G
ENST00000583074.5:n.181T>G
ENST00000583850.5:n.335T>G
ENST00000583858.5:c.491T>G
ENST00000585203.6:n.751T>G
NM_000018.3:c.1560T>G NP_000009.1:p.Ser520Arg
NM_001033859.2:c.1494T>G NP_001029031.1:p.Ser498Arg
NM_001270447.1:c.1629T>G NP_001257376.1:p.Ser543Arg
NM_001270448.1:c.1332T>G NP_001257377.1:p.Ser444Arg
XM_006721516.2:c.1560T>G XP_006721579.2:p.Ser520Arg
XM_011523829.1:c.1462T>G XP_011522131.1:p.Ser488Ala
XM_011523830.1:c.1462T>G XP_011522132.1:p.Ser488Ala
XR_934021.1:n.1667T>G
XR_934022.1:n.1569T>G
XR_934023.1:n.1569T>G
XM_006721516.3:c.1560T>G XP_006721579.2:p.Ser520Arg
XM_011523829.2:c.1462T>G XP_011522131.1:p.Ser488Ala
XM_011523830.2:c.1462T>G XP_011522132.1:p.Ser488Ala
XM_024450741.1:c.1462T>G XP_024306509.1:p.Ser488Ala
XR_934021.2:n.1619T>G
XR_934022.2:n.1521T>G
XR_934023.2:n.1521T>G
NM_000018.4:c.1560T>G MANE Select NP_000009.1:p.Ser520Arg
NM_001033859.3:c.1494T>G NP_001029031.1:p.Ser498Arg
NM_001270447.2:c.1629T>G NP_001257376.1:p.Ser543Arg
NM_001270448.2:c.1332T>G NP_001257377.1:p.Ser444Arg