Canonical Allele Identifier: CA397724641
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127008G>T (hg19) chr17:g.7223689G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223689G>T , CM000679.2:g.7223689G>T GRCh38
NC_000017.10:g.7127008G>T , CM000679.1:g.7127008G>T GRCh37
NC_000017.9:g.7067732G>T NCBI36
NG_007975.1:g.8856G>T
NG_008391.2:g.1362C>A
NG_033038.1:g.15856C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1228G>T MANE Select ENSP00000349297.5:p.Asp410Tyr
ENST00000322910.9:c.*1183G>T ENSP00000325395.5:n.*1183G>T
ENST00000350303.9:c.1162G>T ENSP00000344152.5:p.Asp388Tyr
ENST00000356839.9:c.1228G>T ENSP00000349297.5:p.Asp410Tyr
ENST00000542255.6:c.86G>T
ENST00000543245.6:c.1297G>T ENSP00000438689.2:p.Asp433Tyr
ENST00000578579.2:n.399G>T
ENST00000578711.1:n.185G>T
ENST00000578824.5:n.644G>T
ENST00000579425.5:n.252G>T
ENST00000579546.1:c.65G>T
ENST00000583850.5:n.3G>T
ENST00000583858.5:c.257G>T
ENST00000585203.6:n.436G>T
NM_000018.3:c.1228G>T NP_000009.1:p.Asp410Tyr
NM_001033859.2:c.1162G>T NP_001029031.1:p.Asp388Tyr
NM_001270447.1:c.1297G>T NP_001257376.1:p.Asp433Tyr
NM_001270448.1:c.1000G>T NP_001257377.1:p.Asp334Tyr
XM_006721516.2:c.1228G>T XP_006721579.2:p.Asp410Tyr
XM_011523829.1:c.1228G>T XP_011522131.1:p.Asp410Tyr
XM_011523830.1:c.1228G>T XP_011522132.1:p.Asp410Tyr
XR_934021.1:n.1335G>T
XR_934022.1:n.1335G>T
XR_934023.1:n.1335G>T
XM_006721516.3:c.1228G>T XP_006721579.2:p.Asp410Tyr
XM_011523829.2:c.1228G>T XP_011522131.1:p.Asp410Tyr
XM_011523830.2:c.1228G>T XP_011522132.1:p.Asp410Tyr
XM_024450741.1:c.1228G>T XP_024306509.1:p.Asp410Tyr
XR_934021.2:n.1287G>T
XR_934022.2:n.1287G>T
XR_934023.2:n.1287G>T
NM_000018.4:c.1228G>T MANE Select NP_000009.1:p.Asp410Tyr
NM_001033859.3:c.1162G>T NP_001029031.1:p.Asp388Tyr
NM_001270447.2:c.1297G>T NP_001257376.1:p.Asp433Tyr
NM_001270448.2:c.1000G>T NP_001257377.1:p.Asp334Tyr
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