Canonical Allele Identifier: CA2635780187
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7220741-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220741C>A , CM000679.2:g.7220741C>A GRCh38
NC_000017.10:g.7124060C>A , CM000679.1:g.7124060C>A GRCh37
NC_000017.9:g.7064784C>A NCBI36
NG_007975.1:g.5908C>A
NG_008391.2:g.4310G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.278-25C>A MANE Select ENSP00000349297.5:n.278-25C>A
ENST00000322910.9:c.*233-25C>A ENSP00000325395.5:n.*233-25C>A
ENST00000350303.9:c.212-25C>A ENSP00000344152.5:n.212-25C>A
ENST00000356839.9:c.278-25C>A ENSP00000349297.5:n.278-25C>A
ENST00000543245.6:c.347-25C>A ENSP00000438689.2:n.347-25C>A
ENST00000577191.5:n.355-25C>A
ENST00000577433.5:n.486-25C>A
ENST00000577857.5:n.229-25C>A
ENST00000579286.5:n.459-25C>A
ENST00000579886.2:c.202-204C>A ENSP00000463246.1:n.202-204C>A
ENST00000580263.5:n.506C>A
ENST00000581562.5:n.325-25C>A
ENST00000582056.5:n.368-25C>A
ENST00000582166.1:n.166-25C>A
ENST00000582356.5:n.477-25C>A
ENST00000583312.5:c.278-25C>A ENSP00000467920.1:n.278-25C>A
ENST00000584103.5:c.278-25C>A ENSP00000465353.1:n.278-25C>A
NM_000018.3:c.278-25C>A NP_000009.1:n.278-25C>A
NM_001033859.2:c.212-25C>A NP_001029031.1:n.212-25C>A
NM_001270447.1:c.347-25C>A NP_001257376.1:n.347-25C>A
NM_001270448.1:c.50-25C>A NP_001257377.1:n.50-25C>A
XM_006721516.2:c.278-25C>A XP_006721579.2:n.278-25C>A
XM_011523829.1:c.278-25C>A XP_011522131.1:n.278-25C>A
XM_011523830.1:c.278-25C>A XP_011522132.1:n.278-25C>A
XR_934021.1:n.385-25C>A
XR_934022.1:n.385-25C>A
XR_934023.1:n.385-25C>A
XM_006721516.3:c.278-25C>A XP_006721579.2:n.278-25C>A
XM_011523829.2:c.278-25C>A XP_011522131.1:n.278-25C>A
XM_011523830.2:c.278-25C>A XP_011522132.1:n.278-25C>A
XM_024450741.1:c.278-25C>A XP_024306509.1:n.278-25C>A
XR_934021.2:n.337-25C>A
XR_934022.2:n.337-25C>A
XR_934023.2:n.337-25C>A
NM_000018.4:c.278-25C>A MANE Select NP_000009.1:n.278-25C>A
NM_001033859.3:c.212-25C>A NP_001029031.1:n.212-25C>A
NM_001270447.2:c.347-25C>A NP_001257376.1:n.347-25C>A
NM_001270448.2:c.50-25C>A NP_001257377.1:n.50-25C>A