Canonical Allele Identifier: CA397724112
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126096T>C (hg19) chr17:g.7222777T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222777T>C , CM000679.2:g.7222777T>C GRCh38
NC_000017.10:g.7126096T>C , CM000679.1:g.7126096T>C GRCh37
NC_000017.9:g.7066820T>C NCBI36
NG_007975.1:g.7944T>C
NG_008391.2:g.2274A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.989T>C MANE Select ENSP00000349297.5:p.Phe330Ser
ENST00000322910.9:c.*944T>C ENSP00000325395.5:n.*944T>C
ENST00000350303.9:c.923T>C ENSP00000344152.5:p.Phe308Ser
ENST00000356839.9:c.989T>C ENSP00000349297.5:p.Phe330Ser
ENST00000543245.6:c.1058T>C ENSP00000438689.2:p.Phe353Ser
ENST00000578824.5:n.138T>C
ENST00000581378.5:c.707T>C
ENST00000582379.1:n.373T>C
ENST00000583858.5:c.18T>C
NM_000018.3:c.989T>C NP_000009.1:p.Phe330Ser
NM_001033859.2:c.923T>C NP_001029031.1:p.Phe308Ser
NM_001270447.1:c.1058T>C NP_001257376.1:p.Phe353Ser
NM_001270448.1:c.761T>C NP_001257377.1:p.Phe254Ser
XM_006721516.2:c.989T>C XP_006721579.2:p.Phe330Ser
XM_011523829.1:c.989T>C XP_011522131.1:p.Phe330Ser
XM_011523830.1:c.989T>C XP_011522132.1:p.Phe330Ser
XR_934021.1:n.1096T>C
XR_934022.1:n.1096T>C
XR_934023.1:n.1096T>C
XM_006721516.3:c.989T>C XP_006721579.2:p.Phe330Ser
XM_011523829.2:c.989T>C XP_011522131.1:p.Phe330Ser
XM_011523830.2:c.989T>C XP_011522132.1:p.Phe330Ser
XM_024450741.1:c.989T>C XP_024306509.1:p.Phe330Ser
XR_934021.2:n.1048T>C
XR_934022.2:n.1048T>C
XR_934023.2:n.1048T>C
NM_000018.4:c.989T>C MANE Select NP_000009.1:p.Phe330Ser
NM_001033859.3:c.923T>C NP_001029031.1:p.Phe308Ser
NM_001270447.2:c.1058T>C NP_001257376.1:p.Phe353Ser
NM_001270448.2:c.761T>C NP_001257377.1:p.Phe254Ser
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