Canonical Allele Identifier: CA497694420
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs781063725
MyVariant Identifiers: chr17:g.7127662C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224343C>T , CM000679.2:g.7224343C>T GRCh38
NC_000017.10:g.7127662C>T , CM000679.1:g.7127662C>T GRCh37
NC_000017.9:g.7068386C>T NCBI36
NG_007975.1:g.9510C>T
NG_008391.2:g.708G>A
NG_033038.1:g.15202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1555C>T MANE Select ENSP00000349297.5:p.Leu519=
ENST00000322910.9:c.*1510C>T ENSP00000325395.5:n.*1510C>T
ENST00000350303.9:c.1489C>T ENSP00000344152.5:p.Leu497=
ENST00000356839.9:c.1555C>T ENSP00000349297.5:p.Leu519=
ENST00000542255.6:c.413C>T
ENST00000543245.6:c.1624C>T ENSP00000438689.2:p.Leu542=
ENST00000578319.5:n.50C>T
ENST00000578711.1:n.839C>T
ENST00000578809.5:n.127C>T
ENST00000579391.1:n.163C>T
ENST00000579425.5:n.671C>T
ENST00000579546.1:c.294C>T
ENST00000579894.5:n.342C>T
ENST00000582450.1:n.63C>T
ENST00000583074.5:n.176C>T
ENST00000583850.5:n.330C>T
ENST00000583858.5:c.486C>T
ENST00000585203.6:n.746C>T
NM_000018.3:c.1555C>T NP_000009.1:p.Leu519=
NM_001033859.2:c.1489C>T NP_001029031.1:p.Leu497=
NM_001270447.1:c.1624C>T NP_001257376.1:p.Leu542=
NM_001270448.1:c.1327C>T NP_001257377.1:p.Leu443=
XM_006721516.2:c.1555C>T XP_006721579.2:p.Leu519=
XM_011523829.1:c.1457C>T XP_011522131.1:p.Pro486Leu
XM_011523830.1:c.1457C>T XP_011522132.1:p.Pro486Leu
XR_934021.1:n.1662C>T
XR_934022.1:n.1564C>T
XR_934023.1:n.1564C>T
XM_006721516.3:c.1555C>T XP_006721579.2:p.Leu519=
XM_011523829.2:c.1457C>T XP_011522131.1:p.Pro486Leu
XM_011523830.2:c.1457C>T XP_011522132.1:p.Pro486Leu
XM_024450741.1:c.1457C>T XP_024306509.1:p.Pro486Leu
XR_934021.2:n.1614C>T
XR_934022.2:n.1516C>T
XR_934023.2:n.1516C>T
NM_000018.4:c.1555C>T MANE Select NP_000009.1:p.Leu519=
NM_001033859.3:c.1489C>T NP_001029031.1:p.Leu497=
NM_001270447.2:c.1624C>T NP_001257376.1:p.Leu542=
NM_001270448.2:c.1327C>T NP_001257377.1:p.Leu443=
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