Canonical Allele Identifier: CA397723739
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125554G>C (hg19) chr17:g.7222235G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222235G>C , CM000679.2:g.7222235G>C GRCh38
NC_000017.10:g.7125554G>C , CM000679.1:g.7125554G>C GRCh37
NC_000017.9:g.7066278G>C NCBI36
NG_007975.1:g.7402G>C
NG_008391.2:g.2816C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.811G>C MANE Select ENSP00000349297.5:p.Ala271Pro
ENST00000322910.9:c.*766G>C ENSP00000325395.5:n.*766G>C
ENST00000350303.9:c.745G>C ENSP00000344152.5:p.Ala249Pro
ENST00000356839.9:c.811G>C ENSP00000349297.5:p.Ala271Pro
ENST00000543245.6:c.880G>C ENSP00000438689.2:p.Ala294Pro
ENST00000577191.5:n.983G>C
ENST00000581378.5:c.529G>C
ENST00000582379.1:n.195G>C
NM_000018.3:c.811G>C NP_000009.1:p.Ala271Pro
NM_001033859.2:c.745G>C NP_001029031.1:p.Ala249Pro
NM_001270447.1:c.880G>C NP_001257376.1:p.Ala294Pro
NM_001270448.1:c.583G>C NP_001257377.1:p.Ala195Pro
XM_006721516.2:c.811G>C XP_006721579.2:p.Ala271Pro
XM_011523829.1:c.811G>C XP_011522131.1:p.Ala271Pro
XM_011523830.1:c.811G>C XP_011522132.1:p.Ala271Pro
XR_934021.1:n.918G>C
XR_934022.1:n.918G>C
XR_934023.1:n.918G>C
XM_006721516.3:c.811G>C XP_006721579.2:p.Ala271Pro
XM_011523829.2:c.811G>C XP_011522131.1:p.Ala271Pro
XM_011523830.2:c.811G>C XP_011522132.1:p.Ala271Pro
XM_024450741.1:c.811G>C XP_024306509.1:p.Ala271Pro
XR_934021.2:n.870G>C
XR_934022.2:n.870G>C
XR_934023.2:n.870G>C
NM_000018.4:c.811G>C MANE Select NP_000009.1:p.Ala271Pro
NM_001033859.3:c.745G>C NP_001029031.1:p.Ala249Pro
NM_001270447.2:c.880G>C NP_001257376.1:p.Ala294Pro
NM_001270448.2:c.583G>C NP_001257377.1:p.Ala195Pro
Search 100 bp 5'
Search 100 bp 3'