Canonical Allele Identifier: CA397725218
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127511C>A (hg19) chr17:g.7224192C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224192C>A , CM000679.2:g.7224192C>A GRCh38
NC_000017.10:g.7127511C>A , CM000679.1:g.7127511C>A GRCh37
NC_000017.9:g.7068235C>A NCBI36
NG_007975.1:g.9359C>A
NG_008391.2:g.859G>T
NG_033038.1:g.15353G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1481C>A MANE Select ENSP00000349297.5:p.Pro494His
ENST00000322910.9:c.*1436C>A ENSP00000325395.5:n.*1436C>A
ENST00000350303.9:c.1415C>A ENSP00000344152.5:p.Pro472His
ENST00000356839.9:c.1481C>A ENSP00000349297.5:p.Pro494His
ENST00000542255.6:c.339C>A
ENST00000543245.6:c.1550C>A ENSP00000438689.2:p.Pro517His
ENST00000578711.1:n.688C>A
ENST00000579391.1:n.89C>A
ENST00000579425.5:n.597C>A
ENST00000579546.1:c.271+123C>A
ENST00000579894.5:n.268C>A
ENST00000583074.5:n.153+123C>A
ENST00000583850.5:n.256C>A
ENST00000583858.5:c.463+123C>A
ENST00000585203.6:n.672C>A
NM_000018.3:c.1481C>A NP_000009.1:p.Pro494His
NM_001033859.2:c.1415C>A NP_001029031.1:p.Pro472His
NM_001270447.1:c.1550C>A NP_001257376.1:p.Pro517His
NM_001270448.1:c.1253C>A NP_001257377.1:p.Pro418His
XM_006721516.2:c.1481C>A XP_006721579.2:p.Pro494His
XM_011523829.1:c.1434+123C>A XP_011522131.1:n.1434+123C>A
XM_011523830.1:c.1434+123C>A XP_011522132.1:n.1434+123C>A
XR_934021.1:n.1588C>A
XR_934022.1:n.1541+123C>A
XR_934023.1:n.1541+123C>A
XM_006721516.3:c.1481C>A XP_006721579.2:p.Pro494His
XM_011523829.2:c.1434+123C>A XP_011522131.1:n.1434+123C>A
XM_011523830.2:c.1434+123C>A XP_011522132.1:n.1434+123C>A
XM_024450741.1:c.1434+123C>A XP_024306509.1:n.1434+123C>A
XR_934021.2:n.1540C>A
XR_934022.2:n.1493+123C>A
XR_934023.2:n.1493+123C>A
NM_000018.4:c.1481C>A MANE Select NP_000009.1:p.Pro494His
NM_001033859.3:c.1415C>A NP_001029031.1:p.Pro472His
NM_001270447.2:c.1550C>A NP_001257376.1:p.Pro517His
NM_001270448.2:c.1253C>A NP_001257377.1:p.Pro418His
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