Canonical Allele Identifier: CA497694196
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1549337
ClinVar RCV Id: RCV002189369
dbSNP Id: rs2142986233
MyVariant Identifiers: chr17:g.7127376G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224057G>A , CM000679.2:g.7224057G>A GRCh38
NC_000017.10:g.7127376G>A , CM000679.1:g.7127376G>A GRCh37
NC_000017.9:g.7068100G>A NCBI36
NG_007975.1:g.9224G>A
NG_008391.2:g.994C>T
NG_033038.1:g.15488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1422G>A MANE Select ENSP00000349297.5:p.Leu474=
ENST00000322910.9:c.*1377G>A ENSP00000325395.5:n.*1377G>A
ENST00000350303.9:c.1356G>A ENSP00000344152.5:p.Leu452=
ENST00000356839.9:c.1422G>A ENSP00000349297.5:p.Leu474=
ENST00000542255.6:c.280G>A
ENST00000543245.6:c.1491G>A ENSP00000438689.2:p.Leu497=
ENST00000578711.1:n.553G>A
ENST00000579425.5:n.538G>A
ENST00000579546.1:c.259G>A
ENST00000579894.5:n.133G>A
ENST00000583074.5:n.141G>A
ENST00000583850.5:n.197G>A
ENST00000583858.5:c.451G>A
ENST00000585203.6:n.613G>A
NM_000018.3:c.1422G>A NP_000009.1:p.Leu474=
NM_001033859.2:c.1356G>A NP_001029031.1:p.Leu452=
NM_001270447.1:c.1491G>A NP_001257376.1:p.Leu497=
NM_001270448.1:c.1194G>A NP_001257377.1:p.Leu398=
XM_006721516.2:c.1422G>A XP_006721579.2:p.Leu474=
XM_011523829.1:c.1422G>A XP_011522131.1:p.Leu474=
XM_011523830.1:c.1422G>A XP_011522132.1:p.Leu474=
XR_934021.1:n.1529G>A
XR_934022.1:n.1529G>A
XR_934023.1:n.1529G>A
XM_006721516.3:c.1422G>A XP_006721579.2:p.Leu474=
XM_011523829.2:c.1422G>A XP_011522131.1:p.Leu474=
XM_011523830.2:c.1422G>A XP_011522132.1:p.Leu474=
XM_024450741.1:c.1422G>A XP_024306509.1:p.Leu474=
XR_934021.2:n.1481G>A
XR_934022.2:n.1481G>A
XR_934023.2:n.1481G>A
NM_000018.4:c.1422G>A MANE Select NP_000009.1:p.Leu474=
NM_001033859.3:c.1356G>A NP_001029031.1:p.Leu452=
NM_001270447.2:c.1491G>A NP_001257376.1:p.Leu497=
NM_001270448.2:c.1194G>A NP_001257377.1:p.Leu398=
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