Canonical Allele Identifier: CA397723227
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7124969A>T (hg19) chr17:g.7221650A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221650A>T , CM000679.2:g.7221650A>T GRCh38
NC_000017.10:g.7124969A>T , CM000679.1:g.7124969A>T GRCh37
NC_000017.9:g.7065693A>T NCBI36
NG_007975.1:g.6817A>T
NG_008391.2:g.3401T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.590A>T MANE Select ENSP00000349297.5:p.Gln197Leu
ENST00000322910.9:c.*545A>T ENSP00000325395.5:n.*545A>T
ENST00000350303.9:c.524A>T ENSP00000344152.5:p.Gln175Leu
ENST00000356839.9:c.590A>T ENSP00000349297.5:p.Gln197Leu
ENST00000543245.6:c.659A>T ENSP00000438689.2:p.Gln220Leu
ENST00000577191.5:n.667A>T
ENST00000577433.5:n.798A>T
ENST00000577857.5:n.406A>T
ENST00000579286.5:n.771A>T
ENST00000579886.2:c.428A>T ENSP00000463246.1:p.Gln143Leu
ENST00000580365.1:n.321A>T
ENST00000581378.5:c.308A>T
ENST00000581562.5:n.525-302A>T
ENST00000583312.5:c.590A>T ENSP00000467920.1:p.Gln197Leu
ENST00000583760.1:n.372A>T
NM_000018.3:c.590A>T NP_000009.1:p.Gln197Leu
NM_001033859.2:c.524A>T NP_001029031.1:p.Gln175Leu
NM_001270447.1:c.659A>T NP_001257376.1:p.Gln220Leu
NM_001270448.1:c.362A>T NP_001257377.1:p.Gln121Leu
XM_006721516.2:c.590A>T XP_006721579.2:p.Gln197Leu
XM_011523829.1:c.590A>T XP_011522131.1:p.Gln197Leu
XM_011523830.1:c.590A>T XP_011522132.1:p.Gln197Leu
XR_934021.1:n.697A>T
XR_934022.1:n.697A>T
XR_934023.1:n.697A>T
XM_006721516.3:c.590A>T XP_006721579.2:p.Gln197Leu
XM_011523829.2:c.590A>T XP_011522131.1:p.Gln197Leu
XM_011523830.2:c.590A>T XP_011522132.1:p.Gln197Leu
XM_024450741.1:c.590A>T XP_024306509.1:p.Gln197Leu
XR_934021.2:n.649A>T
XR_934022.2:n.649A>T
XR_934023.2:n.649A>T
NM_000018.4:c.590A>T MANE Select NP_000009.1:p.Gln197Leu
NM_001033859.3:c.524A>T NP_001029031.1:p.Gln175Leu
NM_001270447.2:c.659A>T NP_001257376.1:p.Gln220Leu
NM_001270448.2:c.362A>T NP_001257377.1:p.Gln121Leu
Search 100 bp 5'
Search 100 bp 3'