Canonical Allele Identifier: CA397725060
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127368G>T (hg19) chr17:g.7224049G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224049G>T , CM000679.2:g.7224049G>T GRCh38
NC_000017.10:g.7127368G>T , CM000679.1:g.7127368G>T GRCh37
NC_000017.9:g.7068092G>T NCBI36
NG_007975.1:g.9216G>T
NG_008391.2:g.1002C>A
NG_033038.1:g.15496C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1414G>T MANE Select ENSP00000349297.5:p.Val472Leu
ENST00000322910.9:c.*1369G>T ENSP00000325395.5:n.*1369G>T
ENST00000350303.9:c.1348G>T ENSP00000344152.5:p.Val450Leu
ENST00000356839.9:c.1414G>T ENSP00000349297.5:p.Val472Leu
ENST00000542255.6:c.272G>T
ENST00000543245.6:c.1483G>T ENSP00000438689.2:p.Val495Leu
ENST00000578711.1:n.545G>T
ENST00000579425.5:n.530G>T
ENST00000579546.1:c.251G>T
ENST00000579894.5:n.125G>T
ENST00000583074.5:n.133G>T
ENST00000583850.5:n.189G>T
ENST00000583858.5:c.443G>T
ENST00000585203.6:n.605G>T
NM_000018.3:c.1414G>T NP_000009.1:p.Val472Leu
NM_001033859.2:c.1348G>T NP_001029031.1:p.Val450Leu
NM_001270447.1:c.1483G>T NP_001257376.1:p.Val495Leu
NM_001270448.1:c.1186G>T NP_001257377.1:p.Val396Leu
XM_006721516.2:c.1414G>T XP_006721579.2:p.Val472Leu
XM_011523829.1:c.1414G>T XP_011522131.1:p.Val472Leu
XM_011523830.1:c.1414G>T XP_011522132.1:p.Val472Leu
XR_934021.1:n.1521G>T
XR_934022.1:n.1521G>T
XR_934023.1:n.1521G>T
XM_006721516.3:c.1414G>T XP_006721579.2:p.Val472Leu
XM_011523829.2:c.1414G>T XP_011522131.1:p.Val472Leu
XM_011523830.2:c.1414G>T XP_011522132.1:p.Val472Leu
XM_024450741.1:c.1414G>T XP_024306509.1:p.Val472Leu
XR_934021.2:n.1473G>T
XR_934022.2:n.1473G>T
XR_934023.2:n.1473G>T
NM_000018.4:c.1414G>T MANE Select NP_000009.1:p.Val472Leu
NM_001033859.3:c.1348G>T NP_001029031.1:p.Val450Leu
NM_001270447.2:c.1483G>T NP_001257376.1:p.Val495Leu
NM_001270448.2:c.1186G>T NP_001257377.1:p.Val396Leu
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