Canonical Allele Identifier: CA397723700
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222216G>C , CM000679.2:g.7222216G>C GRCh38
NC_000017.10:g.7125535G>C , CM000679.1:g.7125535G>C GRCh37
NC_000017.9:g.7066259G>C NCBI36
NG_007975.1:g.7383G>C
NG_008391.2:g.2835C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.792G>C MANE Select ENSP00000349297.5:p.Lys264Asn
ENST00000322910.9:c.*747G>C ENSP00000325395.5:n.*747G>C
ENST00000350303.9:c.726G>C ENSP00000344152.5:p.Lys242Asn
ENST00000356839.9:c.792G>C ENSP00000349297.5:p.Lys264Asn
ENST00000543245.6:c.861G>C ENSP00000438689.2:p.Lys287Asn
ENST00000577191.5:n.964G>C
ENST00000581378.5:c.510G>C
ENST00000582379.1:n.176G>C
NM_000018.3:c.792G>C NP_000009.1:p.Lys264Asn
NM_001033859.2:c.726G>C NP_001029031.1:p.Lys242Asn
NM_001270447.1:c.861G>C NP_001257376.1:p.Lys287Asn
NM_001270448.1:c.564G>C NP_001257377.1:p.Lys188Asn
XM_006721516.2:c.792G>C XP_006721579.2:p.Lys264Asn
XM_011523829.1:c.792G>C XP_011522131.1:p.Lys264Asn
XM_011523830.1:c.792G>C XP_011522132.1:p.Lys264Asn
XR_934021.1:n.899G>C
XR_934022.1:n.899G>C
XR_934023.1:n.899G>C
XM_006721516.3:c.792G>C XP_006721579.2:p.Lys264Asn
XM_011523829.2:c.792G>C XP_011522131.1:p.Lys264Asn
XM_011523830.2:c.792G>C XP_011522132.1:p.Lys264Asn
XM_024450741.1:c.792G>C XP_024306509.1:p.Lys264Asn
XR_934021.2:n.851G>C
XR_934022.2:n.851G>C
XR_934023.2:n.851G>C
NM_000018.4:c.792G>C MANE Select NP_000009.1:p.Lys264Asn
NM_001033859.3:c.726G>C NP_001029031.1:p.Lys242Asn
NM_001270447.2:c.861G>C NP_001257376.1:p.Lys287Asn
NM_001270448.2:c.564G>C NP_001257377.1:p.Lys188Asn