Canonical Allele Identifier: CA497694403
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1597537078
MyVariant Identifiers: chr17:g.7127652G>A (hg19)
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Genomic Alleles

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

Transcript Alleles

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