Canonical Allele Identifier: CA397725142
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127475A>C (hg19) chr17:g.7224156A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224156A>C , CM000679.2:g.7224156A>C GRCh38
NC_000017.10:g.7127475A>C , CM000679.1:g.7127475A>C GRCh37
NC_000017.9:g.7068199A>C NCBI36
NG_007975.1:g.9323A>C
NG_008391.2:g.895T>G
NG_033038.1:g.15389T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1445A>C MANE Select ENSP00000349297.5:p.Lys482Thr
ENST00000322910.9:c.*1400A>C ENSP00000325395.5:n.*1400A>C
ENST00000350303.9:c.1379A>C ENSP00000344152.5:p.Lys460Thr
ENST00000356839.9:c.1445A>C ENSP00000349297.5:p.Lys482Thr
ENST00000542255.6:c.303A>C
ENST00000543245.6:c.1514A>C ENSP00000438689.2:p.Lys505Thr
ENST00000578711.1:n.652A>C
ENST00000579391.1:n.53A>C
ENST00000579425.5:n.561A>C
ENST00000579546.1:c.271+87A>C
ENST00000579894.5:n.232A>C
ENST00000583074.5:n.153+87A>C
ENST00000583850.5:n.220A>C
ENST00000583858.5:c.463+87A>C
ENST00000585203.6:n.636A>C
NM_000018.3:c.1445A>C NP_000009.1:p.Lys482Thr
NM_001033859.2:c.1379A>C NP_001029031.1:p.Lys460Thr
NM_001270447.1:c.1514A>C NP_001257376.1:p.Lys505Thr
NM_001270448.1:c.1217A>C NP_001257377.1:p.Lys406Thr
XM_006721516.2:c.1445A>C XP_006721579.2:p.Lys482Thr
XM_011523829.1:c.1434+87A>C XP_011522131.1:n.1434+87A>C
XM_011523830.1:c.1434+87A>C XP_011522132.1:n.1434+87A>C
XR_934021.1:n.1552A>C
XR_934022.1:n.1541+87A>C
XR_934023.1:n.1541+87A>C
XM_006721516.3:c.1445A>C XP_006721579.2:p.Lys482Thr
XM_011523829.2:c.1434+87A>C XP_011522131.1:n.1434+87A>C
XM_011523830.2:c.1434+87A>C XP_011522132.1:n.1434+87A>C
XM_024450741.1:c.1434+87A>C XP_024306509.1:n.1434+87A>C
XR_934021.2:n.1504A>C
XR_934022.2:n.1493+87A>C
XR_934023.2:n.1493+87A>C
NM_000018.4:c.1445A>C MANE Select NP_000009.1:p.Lys482Thr
NM_001033859.3:c.1379A>C NP_001029031.1:p.Lys460Thr
NM_001270447.2:c.1514A>C NP_001257376.1:p.Lys505Thr
NM_001270448.2:c.1217A>C NP_001257377.1:p.Lys406Thr
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