Canonical Allele Identifier: CA397724681
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127027C>A (hg19) chr17:g.7223708C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223708C>A , CM000679.2:g.7223708C>A GRCh38
NC_000017.10:g.7127027C>A , CM000679.1:g.7127027C>A GRCh37
NC_000017.9:g.7067751C>A NCBI36
NG_007975.1:g.8875C>A
NG_008391.2:g.1343G>T
NG_033038.1:g.15837G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1247C>A MANE Select ENSP00000349297.5:p.Ala416Asp
ENST00000322910.9:c.*1202C>A ENSP00000325395.5:n.*1202C>A
ENST00000350303.9:c.1181C>A ENSP00000344152.5:p.Ala394Asp
ENST00000356839.9:c.1247C>A ENSP00000349297.5:p.Ala416Asp
ENST00000542255.6:c.105C>A
ENST00000543245.6:c.1316C>A ENSP00000438689.2:p.Ala439Asp
ENST00000578579.2:n.418C>A
ENST00000578711.1:n.204C>A
ENST00000578824.5:n.663C>A
ENST00000579425.5:n.271C>A
ENST00000579546.1:c.84C>A
ENST00000583850.5:n.22C>A
ENST00000583858.5:c.276C>A
ENST00000585203.6:n.455C>A
NM_000018.3:c.1247C>A NP_000009.1:p.Ala416Asp
NM_001033859.2:c.1181C>A NP_001029031.1:p.Ala394Asp
NM_001270447.1:c.1316C>A NP_001257376.1:p.Ala439Asp
NM_001270448.1:c.1019C>A NP_001257377.1:p.Ala340Asp
XM_006721516.2:c.1247C>A XP_006721579.2:p.Ala416Asp
XM_011523829.1:c.1247C>A XP_011522131.1:p.Ala416Asp
XM_011523830.1:c.1247C>A XP_011522132.1:p.Ala416Asp
XR_934021.1:n.1354C>A
XR_934022.1:n.1354C>A
XR_934023.1:n.1354C>A
XM_006721516.3:c.1247C>A XP_006721579.2:p.Ala416Asp
XM_011523829.2:c.1247C>A XP_011522131.1:p.Ala416Asp
XM_011523830.2:c.1247C>A XP_011522132.1:p.Ala416Asp
XM_024450741.1:c.1247C>A XP_024306509.1:p.Ala416Asp
XR_934021.2:n.1306C>A
XR_934022.2:n.1306C>A
XR_934023.2:n.1306C>A
NM_000018.4:c.1247C>A MANE Select NP_000009.1:p.Ala416Asp
NM_001033859.3:c.1181C>A NP_001029031.1:p.Ala394Asp
NM_001270447.2:c.1316C>A NP_001257376.1:p.Ala439Asp
NM_001270448.2:c.1019C>A NP_001257377.1:p.Ala340Asp
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