Canonical Allele Identifier: CA397724939
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127306T>C (hg19) chr17:g.7223987T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223987T>C , CM000679.2:g.7223987T>C GRCh38
NC_000017.10:g.7127306T>C , CM000679.1:g.7127306T>C GRCh37
NC_000017.9:g.7068030T>C NCBI36
NG_007975.1:g.9154T>C
NG_008391.2:g.1064A>G
NG_033038.1:g.15558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1352T>C MANE Select ENSP00000349297.5:p.Val451Ala
ENST00000322910.9:c.*1307T>C ENSP00000325395.5:n.*1307T>C
ENST00000350303.9:c.1286T>C ENSP00000344152.5:p.Val429Ala
ENST00000356839.9:c.1352T>C ENSP00000349297.5:p.Val451Ala
ENST00000542255.6:c.210T>C
ENST00000543245.6:c.1421T>C ENSP00000438689.2:p.Val474Ala
ENST00000578711.1:n.483T>C
ENST00000579425.5:n.468T>C
ENST00000579546.1:c.189T>C
ENST00000579894.5:n.63T>C
ENST00000583074.5:n.71T>C
ENST00000583850.5:n.127T>C
ENST00000583858.5:c.381T>C
ENST00000585203.6:n.543T>C
NM_000018.3:c.1352T>C NP_000009.1:p.Val451Ala
NM_001033859.2:c.1286T>C NP_001029031.1:p.Val429Ala
NM_001270447.1:c.1421T>C NP_001257376.1:p.Val474Ala
NM_001270448.1:c.1124T>C NP_001257377.1:p.Val375Ala
XM_006721516.2:c.1352T>C XP_006721579.2:p.Val451Ala
XM_011523829.1:c.1352T>C XP_011522131.1:p.Val451Ala
XM_011523830.1:c.1352T>C XP_011522132.1:p.Val451Ala
XR_934021.1:n.1459T>C
XR_934022.1:n.1459T>C
XR_934023.1:n.1459T>C
XM_006721516.3:c.1352T>C XP_006721579.2:p.Val451Ala
XM_011523829.2:c.1352T>C XP_011522131.1:p.Val451Ala
XM_011523830.2:c.1352T>C XP_011522132.1:p.Val451Ala
XM_024450741.1:c.1352T>C XP_024306509.1:p.Val451Ala
XR_934021.2:n.1411T>C
XR_934022.2:n.1411T>C
XR_934023.2:n.1411T>C
NM_000018.4:c.1352T>C MANE Select NP_000009.1:p.Val451Ala
NM_001033859.3:c.1286T>C NP_001029031.1:p.Val429Ala
NM_001270447.2:c.1421T>C NP_001257376.1:p.Val474Ala
NM_001270448.2:c.1124T>C NP_001257377.1:p.Val375Ala
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