Canonical Allele Identifier: CA397724767
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127143G>A (hg19) chr17:g.7223824G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223824G>A , CM000679.2:g.7223824G>A GRCh38
NC_000017.10:g.7127143G>A , CM000679.1:g.7127143G>A GRCh37
NC_000017.9:g.7067867G>A NCBI36
NG_007975.1:g.8991G>A
NG_008391.2:g.1227C>T
NG_033038.1:g.15721C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1281G>A MANE Select ENSP00000349297.5:p.Trp427Ter
ENST00000322910.9:c.*1236G>A ENSP00000325395.5:n.*1236G>A
ENST00000350303.9:c.1215G>A ENSP00000344152.5:p.Trp405Ter
ENST00000356839.9:c.1281G>A ENSP00000349297.5:p.Trp427Ter
ENST00000542255.6:c.139G>A
ENST00000543245.6:c.1350G>A ENSP00000438689.2:p.Trp450Ter
ENST00000578579.2:n.452G>A
ENST00000578711.1:n.320G>A
ENST00000578824.5:n.697G>A
ENST00000579425.5:n.305G>A
ENST00000579546.1:c.118G>A
ENST00000583850.5:n.56G>A
ENST00000583858.5:c.310G>A
ENST00000585203.6:n.489G>A
NM_000018.3:c.1281G>A NP_000009.1:p.Trp427Ter
NM_001033859.2:c.1215G>A NP_001029031.1:p.Trp405Ter
NM_001270447.1:c.1350G>A NP_001257376.1:p.Trp450Ter
NM_001270448.1:c.1053G>A NP_001257377.1:p.Trp351Ter
XM_006721516.2:c.1281G>A XP_006721579.2:p.Trp427Ter
XM_011523829.1:c.1281G>A XP_011522131.1:p.Trp427Ter
XM_011523830.1:c.1281G>A XP_011522132.1:p.Trp427Ter
XR_934021.1:n.1388G>A
XR_934022.1:n.1388G>A
XR_934023.1:n.1388G>A
XM_006721516.3:c.1281G>A XP_006721579.2:p.Trp427Ter
XM_011523829.2:c.1281G>A XP_011522131.1:p.Trp427Ter
XM_011523830.2:c.1281G>A XP_011522132.1:p.Trp427Ter
XM_024450741.1:c.1281G>A XP_024306509.1:p.Trp427Ter
XR_934021.2:n.1340G>A
XR_934022.2:n.1340G>A
XR_934023.2:n.1340G>A
NM_000018.4:c.1281G>A MANE Select NP_000009.1:p.Trp427Ter
NM_001033859.3:c.1215G>A NP_001029031.1:p.Trp405Ter
NM_001270447.2:c.1350G>A NP_001257376.1:p.Trp450Ter
NM_001270448.2:c.1053G>A NP_001257377.1:p.Trp351Ter
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