Canonical Allele Identifier: CA397723244
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124976A>C (hg19) chr17:g.7221657A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221657A>C , CM000679.2:g.7221657A>C GRCh38
NC_000017.10:g.7124976A>C , CM000679.1:g.7124976A>C GRCh37
NC_000017.9:g.7065700A>C NCBI36
NG_007975.1:g.6824A>C
NG_008391.2:g.3394T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.597A>C MANE Select ENSP00000349297.5:p.Glu199Asp
ENST00000322910.9:c.*552A>C ENSP00000325395.5:n.*552A>C
ENST00000350303.9:c.531A>C ENSP00000344152.5:p.Glu177Asp
ENST00000356839.9:c.597A>C ENSP00000349297.5:p.Glu199Asp
ENST00000543245.6:c.666A>C ENSP00000438689.2:p.Glu222Asp
ENST00000577191.5:n.674A>C
ENST00000577857.5:n.413A>C
ENST00000579286.5:n.778A>C
ENST00000579886.2:c.435A>C ENSP00000463246.1:p.Glu145Asp
ENST00000580365.1:n.328A>C
ENST00000581378.5:c.315A>C
ENST00000581562.5:n.525-295A>C
ENST00000583312.5:c.597A>C ENSP00000467920.1:p.Glu199Asp
ENST00000583760.1:n.379A>C
NM_000018.3:c.597A>C NP_000009.1:p.Glu199Asp
NM_001033859.2:c.531A>C NP_001029031.1:p.Glu177Asp
NM_001270447.1:c.666A>C NP_001257376.1:p.Glu222Asp
NM_001270448.1:c.369A>C NP_001257377.1:p.Glu123Asp
XM_006721516.2:c.597A>C XP_006721579.2:p.Glu199Asp
XM_011523829.1:c.597A>C XP_011522131.1:p.Glu199Asp
XM_011523830.1:c.597A>C XP_011522132.1:p.Glu199Asp
XR_934021.1:n.704A>C
XR_934022.1:n.704A>C
XR_934023.1:n.704A>C
XM_006721516.3:c.597A>C XP_006721579.2:p.Glu199Asp
XM_011523829.2:c.597A>C XP_011522131.1:p.Glu199Asp
XM_011523830.2:c.597A>C XP_011522132.1:p.Glu199Asp
XM_024450741.1:c.597A>C XP_024306509.1:p.Glu199Asp
XR_934021.2:n.656A>C
XR_934022.2:n.656A>C
XR_934023.2:n.656A>C
NM_000018.4:c.597A>C MANE Select NP_000009.1:p.Glu199Asp
NM_001033859.3:c.531A>C NP_001029031.1:p.Glu177Asp
NM_001270447.2:c.666A>C NP_001257376.1:p.Glu222Asp
NM_001270448.2:c.369A>C NP_001257377.1:p.Glu123Asp
Search 100 bp 5'
Search 100 bp 3'