Canonical Allele Identifier: CA2245713372
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224211C= , CM000679.2:g.7224211C= GRCh38
NC_000017.10:g.7127530C= , CM000679.1:g.7127530C= GRCh37
NC_000017.9:g.7068254C= NCBI36
NG_007975.1:g.9378C=
NG_008391.2:g.840G=
NG_033038.1:g.15334G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1500C= MANE Select ENSP00000349297.5:p.Leu500=
ENST00000322910.9:c.*1455C= ENSP00000325395.5:n.*1455C=
ENST00000350303.9:c.1434C= ENSP00000344152.5:p.Leu478=
ENST00000356839.9:c.1500C= ENSP00000349297.5:p.Leu500=
ENST00000542255.6:c.358C=
ENST00000543245.6:c.1569C= ENSP00000438689.2:p.Leu523=
ENST00000578711.1:n.707C=
ENST00000579391.1:n.108C=
ENST00000579425.5:n.616C=
ENST00000579546.1:c.272-110C=
ENST00000579894.5:n.287C=
ENST00000583074.5:n.154-110C=
ENST00000583850.5:n.275C=
ENST00000583858.5:c.464-110C=
ENST00000585203.6:n.691C=
NM_000018.3:c.1500C= NP_000009.1:p.Leu500=
NM_001033859.2:c.1434C= NP_001029031.1:p.Leu478=
NM_001270447.1:c.1569C= NP_001257376.1:p.Leu523=
NM_001270448.1:c.1272C= NP_001257377.1:p.Leu424=
XM_006721516.2:c.1500C= XP_006721579.2:p.Leu500=
XM_011523829.1:c.1435-110C= XP_011522131.1:n.1435-110C=
XM_011523830.1:c.1435-110C= XP_011522132.1:n.1435-110C=
XR_934021.1:n.1607C=
XR_934022.1:n.1542-110C=
XR_934023.1:n.1542-110C=
XM_006721516.3:c.1500C= XP_006721579.2:p.Leu500=
XM_011523829.2:c.1435-110C= XP_011522131.1:n.1435-110C=
XM_011523830.2:c.1435-110C= XP_011522132.1:n.1435-110C=
XM_024450741.1:c.1435-110C= XP_024306509.1:n.1435-110C=
XR_934021.2:n.1559C=
XR_934022.2:n.1494-110C=
XR_934023.2:n.1494-110C=
NM_000018.4:c.1500C= MANE Select NP_000009.1:p.Leu500=
NM_001033859.3:c.1434C= NP_001029031.1:p.Leu478=
NM_001270447.2:c.1569C= NP_001257376.1:p.Leu523=
NM_001270448.2:c.1272C= NP_001257377.1:p.Leu424=
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