Canonical Allele Identifier: CA8337629
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs753149462
gnomAD v2: 17-7124054-G-C
gnomAD v4: 17-7220735-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220735G>C , CM000679.2:g.7220735G>C GRCh38
NC_000017.10:g.7124054G>C , CM000679.1:g.7124054G>C GRCh37
NC_000017.9:g.7064778G>C NCBI36
NG_007975.1:g.5902G>C
NG_008391.2:g.4316C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.278-31G>C MANE Select ENSP00000349297.5:n.278-31G>C
ENST00000322910.9:c.*233-31G>C ENSP00000325395.5:n.*233-31G>C
ENST00000350303.9:c.212-31G>C ENSP00000344152.5:n.212-31G>C
ENST00000356839.9:c.278-31G>C ENSP00000349297.5:n.278-31G>C
ENST00000543245.6:c.347-31G>C ENSP00000438689.2:n.347-31G>C
ENST00000577191.5:n.355-31G>C
ENST00000577433.5:n.486-31G>C
ENST00000577857.5:n.229-31G>C
ENST00000578421.1:n.544G>C
ENST00000579286.5:n.459-31G>C
ENST00000579886.2:c.202-210G>C ENSP00000463246.1:n.202-210G>C
ENST00000580263.5:n.500G>C
ENST00000581562.5:n.325-31G>C
ENST00000582056.5:n.368-31G>C
ENST00000582166.1:n.166-31G>C
ENST00000582356.5:n.477-31G>C
ENST00000583312.5:c.278-31G>C ENSP00000467920.1:n.278-31G>C
ENST00000584103.5:c.278-31G>C ENSP00000465353.1:n.278-31G>C
NM_000018.3:c.278-31G>C NP_000009.1:n.278-31G>C
NM_001033859.2:c.212-31G>C NP_001029031.1:n.212-31G>C
NM_001270447.1:c.347-31G>C NP_001257376.1:n.347-31G>C
NM_001270448.1:c.50-31G>C NP_001257377.1:n.50-31G>C
XM_006721516.2:c.278-31G>C XP_006721579.2:n.278-31G>C
XM_011523829.1:c.278-31G>C XP_011522131.1:n.278-31G>C
XM_011523830.1:c.278-31G>C XP_011522132.1:n.278-31G>C
XR_934021.1:n.385-31G>C
XR_934022.1:n.385-31G>C
XR_934023.1:n.385-31G>C
XM_006721516.3:c.278-31G>C XP_006721579.2:n.278-31G>C
XM_011523829.2:c.278-31G>C XP_011522131.1:n.278-31G>C
XM_011523830.2:c.278-31G>C XP_011522132.1:n.278-31G>C
XM_024450741.1:c.278-31G>C XP_024306509.1:n.278-31G>C
XR_934021.2:n.337-31G>C
XR_934022.2:n.337-31G>C
XR_934023.2:n.337-31G>C
NM_000018.4:c.278-31G>C MANE Select NP_000009.1:n.278-31G>C
NM_001033859.3:c.212-31G>C NP_001029031.1:n.212-31G>C
NM_001270447.2:c.347-31G>C NP_001257376.1:n.347-31G>C
NM_001270448.2:c.50-31G>C NP_001257377.1:n.50-31G>C