Canonical Allele Identifier: CA312291
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 203595
dbSNP Id: rs545215807

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221613G>A , CM000679.2:g.7221613G>A GRCh38
NC_000017.10:g.7124932G>A , CM000679.1:g.7124932G>A GRCh37
NC_000017.9:g.7065656G>A NCBI36
NG_007975.1:g.6780G>A
NG_008391.2:g.3438C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.553G>A MANE Select ENSP00000349297.5:p.Gly185Ser
ENST00000322910.9:c.*508G>A ENSP00000325395.5:p.=
ENST00000350303.9:c.487G>A ENSP00000344152.5:p.Gly163Ser
ENST00000356839.9:c.553G>A ENSP00000349297.5:p.Gly185Ser
ENST00000543245.6:c.622G>A ENSP00000438689.2:p.Gly208Ser
ENST00000577191.5:n.630G>A
ENST00000577433.5:n.761G>A
ENST00000577857.5:n.369G>A
ENST00000579286.5:n.734G>A
ENST00000579886.2:c.391G>A ENSP00000463246.1:p.Gly131Ser
ENST00000580365.1:n.284G>A
ENST00000581378.5:n.271G>A
ENST00000581562.5:n.525-339G>A
ENST00000582166.1:n.534G>A
ENST00000583312.5:c.553G>A ENSP00000467920.1:p.Gly185Ser
ENST00000583760.1:n.335G>A
NM_000018.3:c.553G>A NP_000009.1:p.Gly185Ser
NM_001033859.2:c.487G>A NP_001029031.1:p.Gly163Ser
NM_001270447.1:c.622G>A NP_001257376.1:p.Gly208Ser
NM_001270448.1:c.325G>A NP_001257377.1:p.Gly109Ser
XM_006721516.2:c.553G>A XP_006721579.2:p.Gly185Ser
XM_011523829.1:c.553G>A XP_011522131.1:p.Gly185Ser
XM_011523830.1:c.553G>A XP_011522132.1:p.Gly185Ser
XR_934021.1:n.660G>A
XR_934022.1:n.660G>A
XR_934023.1:n.660G>A
XM_006721516.3:c.553G>A XP_006721579.2:p.Gly185Ser
XM_011523829.2:c.553G>A XP_011522131.1:p.Gly185Ser
XM_011523830.2:c.553G>A XP_011522132.1:p.Gly185Ser
XM_024450741.1:c.553G>A XP_024306509.1:p.Gly185Ser
XR_934021.2:n.612G>A
XR_934022.2:n.612G>A
XR_934023.2:n.612G>A
NM_000018.4:c.553G>A MANE Select NP_000009.1:p.Gly185Ser
NM_001033859.3:c.487G>A NP_001029031.1:p.Gly163Ser
NM_001270447.2:c.622G>A NP_001257376.1:p.Gly208Ser
NM_001270448.2:c.325G>A NP_001257377.1:p.Gly109Ser