Canonical Allele Identifier: CA8337757
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs545215807
gnomAD v2: 17-7124932-G-T
gnomAD v3: 17-7221613-G-T
gnomAD v4: 17-7221613-G-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.553G>T MANE Select ENSP00000349297.5:p.Gly185Cys
ENST00000322910.9:c.*508G>T ENSP00000325395.5:n.*508G>T
ENST00000350303.9:c.487G>T ENSP00000344152.5:p.Gly163Cys
ENST00000356839.9:c.553G>T ENSP00000349297.5:p.Gly185Cys
ENST00000543245.6:c.622G>T ENSP00000438689.2:p.Gly208Cys
ENST00000577191.5:n.630G>T
ENST00000577433.5:n.761G>T
ENST00000577857.5:n.369G>T
ENST00000579286.5:n.734G>T
ENST00000579886.2:c.391G>T ENSP00000463246.1:p.Gly131Cys
ENST00000580365.1:n.284G>T
ENST00000581378.5:c.271G>T
ENST00000581562.5:n.525-339G>T
ENST00000582166.1:n.534G>T
ENST00000583312.5:c.553G>T ENSP00000467920.1:p.Gly185Cys
ENST00000583760.1:n.335G>T
NM_000018.3:c.553G>T NP_000009.1:p.Gly185Cys
NM_001033859.2:c.487G>T NP_001029031.1:p.Gly163Cys
NM_001270447.1:c.622G>T NP_001257376.1:p.Gly208Cys
NM_001270448.1:c.325G>T NP_001257377.1:p.Gly109Cys
XM_006721516.2:c.553G>T XP_006721579.2:p.Gly185Cys
XM_011523829.1:c.553G>T XP_011522131.1:p.Gly185Cys
XM_011523830.1:c.553G>T XP_011522132.1:p.Gly185Cys
XR_934021.1:n.660G>T
XR_934022.1:n.660G>T
XR_934023.1:n.660G>T
XM_006721516.3:c.553G>T XP_006721579.2:p.Gly185Cys
XM_011523829.2:c.553G>T XP_011522131.1:p.Gly185Cys
XM_011523830.2:c.553G>T XP_011522132.1:p.Gly185Cys
XM_024450741.1:c.553G>T XP_024306509.1:p.Gly185Cys
XR_934021.2:n.612G>T
XR_934022.2:n.612G>T
XR_934023.2:n.612G>T
NM_000018.4:c.553G>T MANE Select NP_000009.1:p.Gly185Cys
NM_001033859.3:c.487G>T NP_001029031.1:p.Gly163Cys
NM_001270447.2:c.622G>T NP_001257376.1:p.Gly208Cys
NM_001270448.2:c.325G>T NP_001257377.1:p.Gly109Cys