Canonical Allele Identifier: CA497694459
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224363-C-T
MyVariant Identifiers: chr17:g.7127682C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224363C>T , CM000679.2:g.7224363C>T GRCh38
NC_000017.10:g.7127682C>T , CM000679.1:g.7127682C>T GRCh37
NC_000017.9:g.7068406C>T NCBI36
NG_007975.1:g.9530C>T
NG_008391.2:g.688G>A
NG_033038.1:g.15182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1575C>T MANE Select ENSP00000349297.5:p.Val525=
ENST00000322910.9:c.*1530C>T ENSP00000325395.5:n.*1530C>T
ENST00000350303.9:c.1509C>T ENSP00000344152.5:p.Val503=
ENST00000356839.9:c.1575C>T ENSP00000349297.5:p.Val525=
ENST00000542255.6:c.433C>T
ENST00000543245.6:c.1644C>T ENSP00000438689.2:p.Val548=
ENST00000578319.5:n.70C>T
ENST00000578711.1:n.859C>T
ENST00000578809.5:n.147C>T
ENST00000579391.1:n.183C>T
ENST00000579425.5:n.691C>T
ENST00000579546.1:c.314C>T
ENST00000579894.5:n.362C>T
ENST00000582450.1:n.83C>T
ENST00000583074.5:n.196C>T
ENST00000583850.5:n.350C>T
ENST00000583858.5:c.506C>T
ENST00000585203.6:n.766C>T
NM_000018.3:c.1575C>T NP_000009.1:p.Val525=
NM_001033859.2:c.1509C>T NP_001029031.1:p.Val503=
NM_001270447.1:c.1644C>T NP_001257376.1:p.Val548=
NM_001270448.1:c.1347C>T NP_001257377.1:p.Val449=
XM_006721516.2:c.1575C>T XP_006721579.2:p.Val525=
XM_011523829.1:c.1477C>T XP_011522131.1:p.Pro493Ser
XM_011523830.1:c.1477C>T XP_011522132.1:p.Pro493Ser
XR_934021.1:n.1682C>T
XR_934022.1:n.1584C>T
XR_934023.1:n.1584C>T
XM_006721516.3:c.1575C>T XP_006721579.2:p.Val525=
XM_011523829.2:c.1477C>T XP_011522131.1:p.Pro493Ser
XM_011523830.2:c.1477C>T XP_011522132.1:p.Pro493Ser
XM_024450741.1:c.1477C>T XP_024306509.1:p.Pro493Ser
XR_934021.2:n.1634C>T
XR_934022.2:n.1536C>T
XR_934023.2:n.1536C>T
NM_000018.4:c.1575C>T MANE Select NP_000009.1:p.Val525=
NM_001033859.3:c.1509C>T NP_001029031.1:p.Val503=
NM_001270447.2:c.1644C>T NP_001257376.1:p.Val548=
NM_001270448.2:c.1347C>T NP_001257377.1:p.Val449=
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