Canonical Allele Identifier: CA397725102
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127387T>G (hg19) chr17:g.7224068T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224068T>G , CM000679.2:g.7224068T>G GRCh38
NC_000017.10:g.7127387T>G , CM000679.1:g.7127387T>G GRCh37
NC_000017.9:g.7068111T>G NCBI36
NG_007975.1:g.9235T>G
NG_008391.2:g.983A>C
NG_033038.1:g.15477A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1433T>G MANE Select ENSP00000349297.5:p.Met478Arg
ENST00000322910.9:c.*1388T>G ENSP00000325395.5:n.*1388T>G
ENST00000350303.9:c.1367T>G ENSP00000344152.5:p.Met456Arg
ENST00000356839.9:c.1433T>G ENSP00000349297.5:p.Met478Arg
ENST00000542255.6:c.291T>G
ENST00000543245.6:c.1502T>G ENSP00000438689.2:p.Met501Arg
ENST00000578711.1:n.564T>G
ENST00000579425.5:n.549T>G
ENST00000579546.1:c.270T>G
ENST00000579894.5:n.144T>G
ENST00000583074.5:n.152T>G
ENST00000583850.5:n.208T>G
ENST00000583858.5:c.462T>G
ENST00000585203.6:n.624T>G
NM_000018.3:c.1433T>G NP_000009.1:p.Met478Arg
NM_001033859.2:c.1367T>G NP_001029031.1:p.Met456Arg
NM_001270447.1:c.1502T>G NP_001257376.1:p.Met501Arg
NM_001270448.1:c.1205T>G NP_001257377.1:p.Met402Arg
XM_006721516.2:c.1433T>G XP_006721579.2:p.Met478Arg
XM_011523829.1:c.1433T>G XP_011522131.1:p.Met478Arg
XM_011523830.1:c.1433T>G XP_011522132.1:p.Met478Arg
XR_934021.1:n.1540T>G
XR_934022.1:n.1540T>G
XR_934023.1:n.1540T>G
XM_006721516.3:c.1433T>G XP_006721579.2:p.Met478Arg
XM_011523829.2:c.1433T>G XP_011522131.1:p.Met478Arg
XM_011523830.2:c.1433T>G XP_011522132.1:p.Met478Arg
XM_024450741.1:c.1433T>G XP_024306509.1:p.Met478Arg
XR_934021.2:n.1492T>G
XR_934022.2:n.1492T>G
XR_934023.2:n.1492T>G
NM_000018.4:c.1433T>G MANE Select NP_000009.1:p.Met478Arg
NM_001033859.3:c.1367T>G NP_001029031.1:p.Met456Arg
NM_001270447.2:c.1502T>G NP_001257376.1:p.Met501Arg
NM_001270448.2:c.1205T>G NP_001257377.1:p.Met402Arg
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