Canonical Allele Identifier: CA397724696
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127033G>T (hg19) chr17:g.7223714G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223714G>T , CM000679.2:g.7223714G>T GRCh38
NC_000017.10:g.7127033G>T , CM000679.1:g.7127033G>T GRCh37
NC_000017.9:g.7067757G>T NCBI36
NG_007975.1:g.8881G>T
NG_008391.2:g.1337C>A
NG_033038.1:g.15831C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1253G>T MANE Select ENSP00000349297.5:p.Ser418Ile
ENST00000322910.9:c.*1208G>T ENSP00000325395.5:n.*1208G>T
ENST00000350303.9:c.1187G>T ENSP00000344152.5:p.Ser396Ile
ENST00000356839.9:c.1253G>T ENSP00000349297.5:p.Ser418Ile
ENST00000542255.6:c.111G>T
ENST00000543245.6:c.1322G>T ENSP00000438689.2:p.Ser441Ile
ENST00000578579.2:n.424G>T
ENST00000578711.1:n.210G>T
ENST00000578824.5:n.669G>T
ENST00000579425.5:n.277G>T
ENST00000579546.1:c.90G>T
ENST00000583850.5:n.28G>T
ENST00000583858.5:c.282G>T
ENST00000585203.6:n.461G>T
NM_000018.3:c.1253G>T NP_000009.1:p.Ser418Ile
NM_001033859.2:c.1187G>T NP_001029031.1:p.Ser396Ile
NM_001270447.1:c.1322G>T NP_001257376.1:p.Ser441Ile
NM_001270448.1:c.1025G>T NP_001257377.1:p.Ser342Ile
XM_006721516.2:c.1253G>T XP_006721579.2:p.Ser418Ile
XM_011523829.1:c.1253G>T XP_011522131.1:p.Ser418Ile
XM_011523830.1:c.1253G>T XP_011522132.1:p.Ser418Ile
XR_934021.1:n.1360G>T
XR_934022.1:n.1360G>T
XR_934023.1:n.1360G>T
XM_006721516.3:c.1253G>T XP_006721579.2:p.Ser418Ile
XM_011523829.2:c.1253G>T XP_011522131.1:p.Ser418Ile
XM_011523830.2:c.1253G>T XP_011522132.1:p.Ser418Ile
XM_024450741.1:c.1253G>T XP_024306509.1:p.Ser418Ile
XR_934021.2:n.1312G>T
XR_934022.2:n.1312G>T
XR_934023.2:n.1312G>T
NM_000018.4:c.1253G>T MANE Select NP_000009.1:p.Ser418Ile
NM_001033859.3:c.1187G>T NP_001029031.1:p.Ser396Ile
NM_001270447.2:c.1322G>T NP_001257376.1:p.Ser441Ile
NM_001270448.2:c.1025G>T NP_001257377.1:p.Ser342Ile
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