Canonical Allele Identifier: CA497694454
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127679T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224360T>A , CM000679.2:g.7224360T>A GRCh38
NC_000017.10:g.7127679T>A , CM000679.1:g.7127679T>A GRCh37
NC_000017.9:g.7068403T>A NCBI36
NG_007975.1:g.9527T>A
NG_008391.2:g.691A>T
NG_033038.1:g.15185A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1572T>A MANE Select ENSP00000349297.5:p.Leu524=
ENST00000322910.9:c.*1527T>A ENSP00000325395.5:n.*1527T>A
ENST00000350303.9:c.1506T>A ENSP00000344152.5:p.Leu502=
ENST00000356839.9:c.1572T>A ENSP00000349297.5:p.Leu524=
ENST00000542255.6:c.430T>A
ENST00000543245.6:c.1641T>A ENSP00000438689.2:p.Leu547=
ENST00000578319.5:n.67T>A
ENST00000578711.1:n.856T>A
ENST00000578809.5:n.144T>A
ENST00000579391.1:n.180T>A
ENST00000579425.5:n.688T>A
ENST00000579546.1:c.311T>A
ENST00000579894.5:n.359T>A
ENST00000582450.1:n.80T>A
ENST00000583074.5:n.193T>A
ENST00000583850.5:n.347T>A
ENST00000583858.5:c.503T>A
ENST00000585203.6:n.763T>A
NM_000018.3:c.1572T>A NP_000009.1:p.Leu524=
NM_001033859.2:c.1506T>A NP_001029031.1:p.Leu502=
NM_001270447.1:c.1641T>A NP_001257376.1:p.Leu547=
NM_001270448.1:c.1344T>A NP_001257377.1:p.Leu448=
XM_006721516.2:c.1572T>A XP_006721579.2:p.Leu524=
XM_011523829.1:c.1474T>A XP_011522131.1:p.Cys492Ser
XM_011523830.1:c.1474T>A XP_011522132.1:p.Cys492Ser
XR_934021.1:n.1679T>A
XR_934022.1:n.1581T>A
XR_934023.1:n.1581T>A
XM_006721516.3:c.1572T>A XP_006721579.2:p.Leu524=
XM_011523829.2:c.1474T>A XP_011522131.1:p.Cys492Ser
XM_011523830.2:c.1474T>A XP_011522132.1:p.Cys492Ser
XM_024450741.1:c.1474T>A XP_024306509.1:p.Cys492Ser
XR_934021.2:n.1631T>A
XR_934022.2:n.1533T>A
XR_934023.2:n.1533T>A
NM_000018.4:c.1572T>A MANE Select NP_000009.1:p.Leu524=
NM_001033859.3:c.1506T>A NP_001029031.1:p.Leu502=
NM_001270447.2:c.1641T>A NP_001257376.1:p.Leu547=
NM_001270448.2:c.1344T>A NP_001257377.1:p.Leu448=
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