Canonical Allele Identifier: CA497694419
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127661C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224342C>T , CM000679.2:g.7224342C>T GRCh38
NC_000017.10:g.7127661C>T , CM000679.1:g.7127661C>T GRCh37
NC_000017.9:g.7068385C>T NCBI36
NG_007975.1:g.9509C>T
NG_008391.2:g.709G>A
NG_033038.1:g.15203G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1554C>T MANE Select ENSP00000349297.5:p.Gly518=
ENST00000322910.9:c.*1509C>T ENSP00000325395.5:n.*1509C>T
ENST00000350303.9:c.1488C>T ENSP00000344152.5:p.Gly496=
ENST00000356839.9:c.1554C>T ENSP00000349297.5:p.Gly518=
ENST00000542255.6:c.412C>T
ENST00000543245.6:c.1623C>T ENSP00000438689.2:p.Gly541=
ENST00000578319.5:n.49C>T
ENST00000578711.1:n.838C>T
ENST00000578809.5:n.126C>T
ENST00000579391.1:n.162C>T
ENST00000579425.5:n.670C>T
ENST00000579546.1:c.293C>T
ENST00000579894.5:n.341C>T
ENST00000582450.1:n.62C>T
ENST00000583074.5:n.175C>T
ENST00000583850.5:n.329C>T
ENST00000583858.5:c.485C>T
ENST00000585203.6:n.745C>T
NM_000018.3:c.1554C>T NP_000009.1:p.Gly518=
NM_001033859.2:c.1488C>T NP_001029031.1:p.Gly496=
NM_001270447.1:c.1623C>T NP_001257376.1:p.Gly541=
NM_001270448.1:c.1326C>T NP_001257377.1:p.Gly442=
XM_006721516.2:c.1554C>T XP_006721579.2:p.Gly518=
XM_011523829.1:c.1456C>T XP_011522131.1:p.Pro486Ser
XM_011523830.1:c.1456C>T XP_011522132.1:p.Pro486Ser
XR_934021.1:n.1661C>T
XR_934022.1:n.1563C>T
XR_934023.1:n.1563C>T
XM_006721516.3:c.1554C>T XP_006721579.2:p.Gly518=
XM_011523829.2:c.1456C>T XP_011522131.1:p.Pro486Ser
XM_011523830.2:c.1456C>T XP_011522132.1:p.Pro486Ser
XM_024450741.1:c.1456C>T XP_024306509.1:p.Pro486Ser
XR_934021.2:n.1613C>T
XR_934022.2:n.1515C>T
XR_934023.2:n.1515C>T
NM_000018.4:c.1554C>T MANE Select NP_000009.1:p.Gly518=
NM_001033859.3:c.1488C>T NP_001029031.1:p.Gly496=
NM_001270447.2:c.1623C>T NP_001257376.1:p.Gly541=
NM_001270448.2:c.1326C>T NP_001257377.1:p.Gly442=
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