Canonical Allele Identifier: CA397724945
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127309T>C (hg19) chr17:g.7223990T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223990T>C , CM000679.2:g.7223990T>C GRCh38
NC_000017.10:g.7127309T>C , CM000679.1:g.7127309T>C GRCh37
NC_000017.9:g.7068033T>C NCBI36
NG_007975.1:g.9157T>C
NG_008391.2:g.1061A>G
NG_033038.1:g.15555A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1355T>C MANE Select ENSP00000349297.5:p.Leu452Pro
ENST00000322910.9:c.*1310T>C ENSP00000325395.5:n.*1310T>C
ENST00000350303.9:c.1289T>C ENSP00000344152.5:p.Leu430Pro
ENST00000356839.9:c.1355T>C ENSP00000349297.5:p.Leu452Pro
ENST00000542255.6:c.213T>C
ENST00000543245.6:c.1424T>C ENSP00000438689.2:p.Leu475Pro
ENST00000578711.1:n.486T>C
ENST00000579425.5:n.471T>C
ENST00000579546.1:c.192T>C
ENST00000579894.5:n.66T>C
ENST00000583074.5:n.74T>C
ENST00000583850.5:n.130T>C
ENST00000583858.5:c.384T>C
ENST00000585203.6:n.546T>C
NM_000018.3:c.1355T>C NP_000009.1:p.Leu452Pro
NM_001033859.2:c.1289T>C NP_001029031.1:p.Leu430Pro
NM_001270447.1:c.1424T>C NP_001257376.1:p.Leu475Pro
NM_001270448.1:c.1127T>C NP_001257377.1:p.Leu376Pro
XM_006721516.2:c.1355T>C XP_006721579.2:p.Leu452Pro
XM_011523829.1:c.1355T>C XP_011522131.1:p.Leu452Pro
XM_011523830.1:c.1355T>C XP_011522132.1:p.Leu452Pro
XR_934021.1:n.1462T>C
XR_934022.1:n.1462T>C
XR_934023.1:n.1462T>C
XM_006721516.3:c.1355T>C XP_006721579.2:p.Leu452Pro
XM_011523829.2:c.1355T>C XP_011522131.1:p.Leu452Pro
XM_011523830.2:c.1355T>C XP_011522132.1:p.Leu452Pro
XM_024450741.1:c.1355T>C XP_024306509.1:p.Leu452Pro
XR_934021.2:n.1414T>C
XR_934022.2:n.1414T>C
XR_934023.2:n.1414T>C
NM_000018.4:c.1355T>C MANE Select NP_000009.1:p.Leu452Pro
NM_001033859.3:c.1289T>C NP_001029031.1:p.Leu430Pro
NM_001270447.2:c.1424T>C NP_001257376.1:p.Leu475Pro
NM_001270448.2:c.1127T>C NP_001257377.1:p.Leu376Pro
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