Canonical Allele Identifier: CA497694394
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127643G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224324G>T , CM000679.2:g.7224324G>T GRCh38
NC_000017.10:g.7127643G>T , CM000679.1:g.7127643G>T GRCh37
NC_000017.9:g.7068367G>T NCBI36
NG_007975.1:g.9491G>T
NG_008391.2:g.727C>A
NG_033038.1:g.15221C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1536G>T MANE Select ENSP00000349297.5:p.Arg512=
ENST00000322910.9:c.*1491G>T ENSP00000325395.5:n.*1491G>T
ENST00000350303.9:c.1470G>T ENSP00000344152.5:p.Arg490=
ENST00000356839.9:c.1536G>T ENSP00000349297.5:p.Arg512=
ENST00000542255.6:c.394G>T
ENST00000543245.6:c.1605G>T ENSP00000438689.2:p.Arg535=
ENST00000578319.5:n.31G>T
ENST00000578711.1:n.820G>T
ENST00000578809.5:n.108G>T
ENST00000579391.1:n.144G>T
ENST00000579425.5:n.652G>T
ENST00000579546.1:c.275G>T
ENST00000579894.5:n.323G>T
ENST00000582450.1:n.44G>T
ENST00000583074.5:n.157G>T
ENST00000583850.5:n.311G>T
ENST00000583858.5:c.467G>T
ENST00000585203.6:n.727G>T
NM_000018.3:c.1536G>T NP_000009.1:p.Arg512=
NM_001033859.2:c.1470G>T NP_001029031.1:p.Arg490=
NM_001270447.1:c.1605G>T NP_001257376.1:p.Arg535=
NM_001270448.1:c.1308G>T NP_001257377.1:p.Arg436=
XM_006721516.2:c.1536G>T XP_006721579.2:p.Arg512=
XM_011523829.1:c.1438G>T XP_011522131.1:p.Gly480Cys
XM_011523830.1:c.1438G>T XP_011522132.1:p.Gly480Cys
XR_934021.1:n.1643G>T
XR_934022.1:n.1545G>T
XR_934023.1:n.1545G>T
XM_006721516.3:c.1536G>T XP_006721579.2:p.Arg512=
XM_011523829.2:c.1438G>T XP_011522131.1:p.Gly480Cys
XM_011523830.2:c.1438G>T XP_011522132.1:p.Gly480Cys
XM_024450741.1:c.1438G>T XP_024306509.1:p.Gly480Cys
XR_934021.2:n.1595G>T
XR_934022.2:n.1497G>T
XR_934023.2:n.1497G>T
NM_000018.4:c.1536G>T MANE Select NP_000009.1:p.Arg512=
NM_001033859.3:c.1470G>T NP_001029031.1:p.Arg490=
NM_001270447.2:c.1605G>T NP_001257376.1:p.Arg535=
NM_001270448.2:c.1308G>T NP_001257377.1:p.Arg436=
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