Canonical Allele Identifier: CA397724833
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127170C>G (hg19) chr17:g.7223851C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223851C>G , CM000679.2:g.7223851C>G GRCh38
NC_000017.10:g.7127170C>G , CM000679.1:g.7127170C>G GRCh37
NC_000017.9:g.7067894C>G NCBI36
NG_007975.1:g.9018C>G
NG_008391.2:g.1200G>C
NG_033038.1:g.15694G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1308C>G MANE Select ENSP00000349297.5:p.Ile436Met
ENST00000322910.9:c.*1263C>G ENSP00000325395.5:n.*1263C>G
ENST00000350303.9:c.1242C>G ENSP00000344152.5:p.Ile414Met
ENST00000356839.9:c.1308C>G ENSP00000349297.5:p.Ile436Met
ENST00000542255.6:c.166C>G
ENST00000543245.6:c.1377C>G ENSP00000438689.2:p.Ile459Met
ENST00000578711.1:n.347C>G
ENST00000579425.5:n.332C>G
ENST00000579546.1:c.145C>G
ENST00000583074.5:n.27C>G
ENST00000583850.5:n.83C>G
ENST00000583858.5:c.337C>G
ENST00000585203.6:n.516C>G
NM_000018.3:c.1308C>G NP_000009.1:p.Ile436Met
NM_001033859.2:c.1242C>G NP_001029031.1:p.Ile414Met
NM_001270447.1:c.1377C>G NP_001257376.1:p.Ile459Met
NM_001270448.1:c.1080C>G NP_001257377.1:p.Ile360Met
XM_006721516.2:c.1308C>G XP_006721579.2:p.Ile436Met
XM_011523829.1:c.1308C>G XP_011522131.1:p.Ile436Met
XM_011523830.1:c.1308C>G XP_011522132.1:p.Ile436Met
XR_934021.1:n.1415C>G
XR_934022.1:n.1415C>G
XR_934023.1:n.1415C>G
XM_006721516.3:c.1308C>G XP_006721579.2:p.Ile436Met
XM_011523829.2:c.1308C>G XP_011522131.1:p.Ile436Met
XM_011523830.2:c.1308C>G XP_011522132.1:p.Ile436Met
XM_024450741.1:c.1308C>G XP_024306509.1:p.Ile436Met
XR_934021.2:n.1367C>G
XR_934022.2:n.1367C>G
XR_934023.2:n.1367C>G
NM_000018.4:c.1308C>G MANE Select NP_000009.1:p.Ile436Met
NM_001033859.3:c.1242C>G NP_001029031.1:p.Ile414Met
NM_001270447.2:c.1377C>G NP_001257376.1:p.Ile459Met
NM_001270448.2:c.1080C>G NP_001257377.1:p.Ile360Met
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