Canonical Allele Identifier: CA397724268
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126170A>C (hg19) chr17:g.7222851A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222851A>C , CM000679.2:g.7222851A>C GRCh38
NC_000017.10:g.7126170A>C , CM000679.1:g.7126170A>C GRCh37
NC_000017.9:g.7066894A>C NCBI36
NG_007975.1:g.8018A>C
NG_008391.2:g.2200T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1063A>C MANE Select ENSP00000349297.5:p.Ile355Leu
ENST00000322910.9:c.*1018A>C ENSP00000325395.5:n.*1018A>C
ENST00000350303.9:c.997A>C ENSP00000344152.5:p.Ile333Leu
ENST00000356839.9:c.1063A>C ENSP00000349297.5:p.Ile355Leu
ENST00000543245.6:c.1132A>C ENSP00000438689.2:p.Ile378Leu
ENST00000578824.5:n.212A>C
ENST00000582379.1:n.447A>C
ENST00000583858.5:c.92A>C
ENST00000585203.6:n.4A>C
NM_000018.3:c.1063A>C NP_000009.1:p.Ile355Leu
NM_001033859.2:c.997A>C NP_001029031.1:p.Ile333Leu
NM_001270447.1:c.1132A>C NP_001257376.1:p.Ile378Leu
NM_001270448.1:c.835A>C NP_001257377.1:p.Ile279Leu
XM_006721516.2:c.1063A>C XP_006721579.2:p.Ile355Leu
XM_011523829.1:c.1063A>C XP_011522131.1:p.Ile355Leu
XM_011523830.1:c.1063A>C XP_011522132.1:p.Ile355Leu
XR_934021.1:n.1170A>C
XR_934022.1:n.1170A>C
XR_934023.1:n.1170A>C
XM_006721516.3:c.1063A>C XP_006721579.2:p.Ile355Leu
XM_011523829.2:c.1063A>C XP_011522131.1:p.Ile355Leu
XM_011523830.2:c.1063A>C XP_011522132.1:p.Ile355Leu
XM_024450741.1:c.1063A>C XP_024306509.1:p.Ile355Leu
XR_934021.2:n.1122A>C
XR_934022.2:n.1122A>C
XR_934023.2:n.1122A>C
NM_000018.4:c.1063A>C MANE Select NP_000009.1:p.Ile355Leu
NM_001033859.3:c.997A>C NP_001029031.1:p.Ile333Leu
NM_001270447.2:c.1132A>C NP_001257376.1:p.Ile378Leu
NM_001270448.2:c.835A>C NP_001257377.1:p.Ile279Leu
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