Canonical Allele Identifier: CA397723344
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125275G>C (hg19) chr17:g.7221956G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221956G>C , CM000679.2:g.7221956G>C GRCh38
NC_000017.10:g.7125275G>C , CM000679.1:g.7125275G>C GRCh37
NC_000017.9:g.7065999G>C NCBI36
NG_007975.1:g.7123G>C
NG_008391.2:g.3095C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.627G>C MANE Select ENSP00000349297.5:p.Glu209Asp
ENST00000322910.9:c.*582G>C ENSP00000325395.5:n.*582G>C
ENST00000350303.9:c.561G>C ENSP00000344152.5:p.Glu187Asp
ENST00000356839.9:c.627G>C ENSP00000349297.5:p.Glu209Asp
ENST00000543245.6:c.696G>C ENSP00000438689.2:p.Glu232Asp
ENST00000577191.5:n.704G>C
ENST00000577857.5:n.443G>C
ENST00000579286.5:n.808G>C
ENST00000579886.2:c.465G>C ENSP00000463246.1:p.Glu155Asp
ENST00000580365.1:n.358G>C
ENST00000581378.5:c.345G>C
ENST00000581562.5:n.529G>C
ENST00000582379.1:n.11G>C
ENST00000583312.5:c.642G>C ENSP00000467920.1:p.Glu214Asp
ENST00000583760.1:n.409G>C
NM_000018.3:c.627G>C NP_000009.1:p.Glu209Asp
NM_001033859.2:c.561G>C NP_001029031.1:p.Glu187Asp
NM_001270447.1:c.696G>C NP_001257376.1:p.Glu232Asp
NM_001270448.1:c.399G>C NP_001257377.1:p.Glu133Asp
XM_006721516.2:c.627G>C XP_006721579.2:p.Glu209Asp
XM_011523829.1:c.627G>C XP_011522131.1:p.Glu209Asp
XM_011523830.1:c.627G>C XP_011522132.1:p.Glu209Asp
XR_934021.1:n.734G>C
XR_934022.1:n.734G>C
XR_934023.1:n.734G>C
XM_006721516.3:c.627G>C XP_006721579.2:p.Glu209Asp
XM_011523829.2:c.627G>C XP_011522131.1:p.Glu209Asp
XM_011523830.2:c.627G>C XP_011522132.1:p.Glu209Asp
XM_024450741.1:c.627G>C XP_024306509.1:p.Glu209Asp
XR_934021.2:n.686G>C
XR_934022.2:n.686G>C
XR_934023.2:n.686G>C
NM_000018.4:c.627G>C MANE Select NP_000009.1:p.Glu209Asp
NM_001033859.3:c.561G>C NP_001029031.1:p.Glu187Asp
NM_001270447.2:c.696G>C NP_001257376.1:p.Glu232Asp
NM_001270448.2:c.399G>C NP_001257377.1:p.Glu133Asp
Search 100 bp 5'
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