Canonical Allele Identifier: CA497694195
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223857-G-T
MyVariant Identifiers: chr17:g.7127176G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223857G>T , CM000679.2:g.7223857G>T GRCh38
NC_000017.10:g.7127176G>T , CM000679.1:g.7127176G>T GRCh37
NC_000017.9:g.7067900G>T NCBI36
NG_007975.1:g.9024G>T
NG_008391.2:g.1194C>A
NG_033038.1:g.15688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1314G>T MANE Select ENSP00000349297.5:p.Gly438=
ENST00000322910.9:c.*1269G>T ENSP00000325395.5:n.*1269G>T
ENST00000350303.9:c.1248G>T ENSP00000344152.5:p.Gly416=
ENST00000356839.9:c.1314G>T ENSP00000349297.5:p.Gly438=
ENST00000542255.6:c.172G>T
ENST00000543245.6:c.1383G>T ENSP00000438689.2:p.Gly461=
ENST00000578711.1:n.353G>T
ENST00000579425.5:n.338G>T
ENST00000579546.1:c.151G>T
ENST00000583074.5:n.33G>T
ENST00000583850.5:n.89G>T
ENST00000583858.5:c.343G>T
ENST00000585203.6:n.522G>T
NM_000018.3:c.1314G>T NP_000009.1:p.Gly438=
NM_001033859.2:c.1248G>T NP_001029031.1:p.Gly416=
NM_001270447.1:c.1383G>T NP_001257376.1:p.Gly461=
NM_001270448.1:c.1086G>T NP_001257377.1:p.Gly362=
XM_006721516.2:c.1314G>T XP_006721579.2:p.Gly438=
XM_011523829.1:c.1314G>T XP_011522131.1:p.Gly438=
XM_011523830.1:c.1314G>T XP_011522132.1:p.Gly438=
XR_934021.1:n.1421G>T
XR_934022.1:n.1421G>T
XR_934023.1:n.1421G>T
XM_006721516.3:c.1314G>T XP_006721579.2:p.Gly438=
XM_011523829.2:c.1314G>T XP_011522131.1:p.Gly438=
XM_011523830.2:c.1314G>T XP_011522132.1:p.Gly438=
XM_024450741.1:c.1314G>T XP_024306509.1:p.Gly438=
XR_934021.2:n.1373G>T
XR_934022.2:n.1373G>T
XR_934023.2:n.1373G>T
NM_000018.4:c.1314G>T MANE Select NP_000009.1:p.Gly438=
NM_001033859.3:c.1248G>T NP_001029031.1:p.Gly416=
NM_001270447.2:c.1383G>T NP_001257376.1:p.Gly461=
NM_001270448.2:c.1086G>T NP_001257377.1:p.Gly362=
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