Canonical Allele Identifier: CA497694404
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127652G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224333G>C , CM000679.2:g.7224333G>C GRCh38
NC_000017.10:g.7127652G>C , CM000679.1:g.7127652G>C GRCh37
NC_000017.9:g.7068376G>C NCBI36
NG_007975.1:g.9500G>C
NG_008391.2:g.718C>G
NG_033038.1:g.15212C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1545G>C MANE Select ENSP00000349297.5:p.Leu515=
ENST00000322910.9:c.*1500G>C ENSP00000325395.5:n.*1500G>C
ENST00000350303.9:c.1479G>C ENSP00000344152.5:p.Leu493=
ENST00000356839.9:c.1545G>C ENSP00000349297.5:p.Leu515=
ENST00000542255.6:c.403G>C
ENST00000543245.6:c.1614G>C ENSP00000438689.2:p.Leu538=
ENST00000578319.5:n.40G>C
ENST00000578711.1:n.829G>C
ENST00000578809.5:n.117G>C
ENST00000579391.1:n.153G>C
ENST00000579425.5:n.661G>C
ENST00000579546.1:c.284G>C
ENST00000579894.5:n.332G>C
ENST00000582450.1:n.53G>C
ENST00000583074.5:n.166G>C
ENST00000583850.5:n.320G>C
ENST00000583858.5:c.476G>C
ENST00000585203.6:n.736G>C
NM_000018.3:c.1545G>C NP_000009.1:p.Leu515=
NM_001033859.2:c.1479G>C NP_001029031.1:p.Leu493=
NM_001270447.1:c.1614G>C NP_001257376.1:p.Leu538=
NM_001270448.1:c.1317G>C NP_001257377.1:p.Leu439=
XM_006721516.2:c.1545G>C XP_006721579.2:p.Leu515=
XM_011523829.1:c.1447G>C XP_011522131.1:p.Gly483Arg
XM_011523830.1:c.1447G>C XP_011522132.1:p.Gly483Arg
XR_934021.1:n.1652G>C
XR_934022.1:n.1554G>C
XR_934023.1:n.1554G>C
XM_006721516.3:c.1545G>C XP_006721579.2:p.Leu515=
XM_011523829.2:c.1447G>C XP_011522131.1:p.Gly483Arg
XM_011523830.2:c.1447G>C XP_011522132.1:p.Gly483Arg
XM_024450741.1:c.1447G>C XP_024306509.1:p.Gly483Arg
XR_934021.2:n.1604G>C
XR_934022.2:n.1506G>C
XR_934023.2:n.1506G>C
NM_000018.4:c.1545G>C MANE Select NP_000009.1:p.Leu515=
NM_001033859.3:c.1479G>C NP_001029031.1:p.Leu493=
NM_001270447.2:c.1614G>C NP_001257376.1:p.Leu538=
NM_001270448.2:c.1317G>C NP_001257377.1:p.Leu439=
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