Canonical Allele Identifier: CA397723262
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2182425
ClinVar RCV Id: RCV002592007
COSMIC: COSM5387195
MyVariant Identifiers: chr17:g.7124983C>T (hg19) chr17:g.7221664C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221664C>T , CM000679.2:g.7221664C>T GRCh38
NC_000017.10:g.7124983C>T , CM000679.1:g.7124983C>T GRCh37
NC_000017.9:g.7065707C>T NCBI36
NG_007975.1:g.6831C>T
NG_008391.2:g.3387G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.604C>T MANE Select ENSP00000349297.5:p.Leu202Phe
ENST00000322910.9:c.*559C>T ENSP00000325395.5:n.*559C>T
ENST00000350303.9:c.538C>T ENSP00000344152.5:p.Leu180Phe
ENST00000356839.9:c.604C>T ENSP00000349297.5:p.Leu202Phe
ENST00000543245.6:c.673C>T ENSP00000438689.2:p.Leu225Phe
ENST00000577191.5:n.681C>T
ENST00000577857.5:n.420C>T
ENST00000579286.5:n.785C>T
ENST00000579886.2:c.442C>T ENSP00000463246.1:p.Leu148Phe
ENST00000580365.1:n.335C>T
ENST00000581378.5:c.322C>T
ENST00000581562.5:n.525-288C>T
ENST00000583312.5:c.604C>T ENSP00000467920.1:p.Leu202Phe
ENST00000583760.1:n.386C>T
NM_000018.3:c.604C>T NP_000009.1:p.Leu202Phe
NM_001033859.2:c.538C>T NP_001029031.1:p.Leu180Phe
NM_001270447.1:c.673C>T NP_001257376.1:p.Leu225Phe
NM_001270448.1:c.376C>T NP_001257377.1:p.Leu126Phe
XM_006721516.2:c.604C>T XP_006721579.2:p.Leu202Phe
XM_011523829.1:c.604C>T XP_011522131.1:p.Leu202Phe
XM_011523830.1:c.604C>T XP_011522132.1:p.Leu202Phe
XR_934021.1:n.711C>T
XR_934022.1:n.711C>T
XR_934023.1:n.711C>T
XM_006721516.3:c.604C>T XP_006721579.2:p.Leu202Phe
XM_011523829.2:c.604C>T XP_011522131.1:p.Leu202Phe
XM_011523830.2:c.604C>T XP_011522132.1:p.Leu202Phe
XM_024450741.1:c.604C>T XP_024306509.1:p.Leu202Phe
XR_934021.2:n.663C>T
XR_934022.2:n.663C>T
XR_934023.2:n.663C>T
NM_000018.4:c.604C>T MANE Select NP_000009.1:p.Leu202Phe
NM_001033859.3:c.538C>T NP_001029031.1:p.Leu180Phe
NM_001270447.2:c.673C>T NP_001257376.1:p.Leu225Phe
NM_001270448.2:c.376C>T NP_001257377.1:p.Leu126Phe
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