Canonical Allele Identifier: CA397723784
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1423519889
gnomAD v4: 17-7222258-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222258G>C , CM000679.2:g.7222258G>C GRCh38
NC_000017.10:g.7125577G>C , CM000679.1:g.7125577G>C GRCh37
NC_000017.9:g.7066301G>C NCBI36
NG_007975.1:g.7425G>C
NG_008391.2:g.2793C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.834G>C MANE Select ENSP00000349297.5:p.Lys278Asn
ENST00000322910.9:c.*789G>C ENSP00000325395.5:n.*789G>C
ENST00000350303.9:c.768G>C ENSP00000344152.5:p.Lys256Asn
ENST00000356839.9:c.834G>C ENSP00000349297.5:p.Lys278Asn
ENST00000543245.6:c.903G>C ENSP00000438689.2:p.Lys301Asn
ENST00000577191.5:n.1006G>C
ENST00000581378.5:c.552G>C
ENST00000582379.1:n.218G>C
NM_000018.3:c.834G>C NP_000009.1:p.Lys278Asn
NM_001033859.2:c.768G>C NP_001029031.1:p.Lys256Asn
NM_001270447.1:c.903G>C NP_001257376.1:p.Lys301Asn
NM_001270448.1:c.606G>C NP_001257377.1:p.Lys202Asn
XM_006721516.2:c.834G>C XP_006721579.2:p.Lys278Asn
XM_011523829.1:c.834G>C XP_011522131.1:p.Lys278Asn
XM_011523830.1:c.834G>C XP_011522132.1:p.Lys278Asn
XR_934021.1:n.941G>C
XR_934022.1:n.941G>C
XR_934023.1:n.941G>C
XM_006721516.3:c.834G>C XP_006721579.2:p.Lys278Asn
XM_011523829.2:c.834G>C XP_011522131.1:p.Lys278Asn
XM_011523830.2:c.834G>C XP_011522132.1:p.Lys278Asn
XM_024450741.1:c.834G>C XP_024306509.1:p.Lys278Asn
XR_934021.2:n.893G>C
XR_934022.2:n.893G>C
XR_934023.2:n.893G>C
NM_000018.4:c.834G>C MANE Select NP_000009.1:p.Lys278Asn
NM_001033859.3:c.768G>C NP_001029031.1:p.Lys256Asn
NM_001270447.2:c.903G>C NP_001257376.1:p.Lys301Asn
NM_001270448.2:c.606G>C NP_001257377.1:p.Lys202Asn