Canonical Allele Identifier: CA397725220
Gene: ACADVL HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1481C>T MANE Select ENSP00000349297.5:p.Pro494Leu
ENST00000322910.9:c.*1436C>T ENSP00000325395.5:n.*1436C>T
ENST00000350303.9:c.1415C>T ENSP00000344152.5:p.Pro472Leu
ENST00000356839.9:c.1481C>T ENSP00000349297.5:p.Pro494Leu
ENST00000542255.6:c.339C>T
ENST00000543245.6:c.1550C>T ENSP00000438689.2:p.Pro517Leu
ENST00000578711.1:n.688C>T
ENST00000579391.1:n.89C>T
ENST00000579425.5:n.597C>T
ENST00000579546.1:c.271+123C>T
ENST00000579894.5:n.268C>T
ENST00000583074.5:n.153+123C>T
ENST00000583850.5:n.256C>T
ENST00000583858.5:c.463+123C>T
ENST00000585203.6:n.672C>T
NM_000018.3:c.1481C>T NP_000009.1:p.Pro494Leu
NM_001033859.2:c.1415C>T NP_001029031.1:p.Pro472Leu
NM_001270447.1:c.1550C>T NP_001257376.1:p.Pro517Leu
NM_001270448.1:c.1253C>T NP_001257377.1:p.Pro418Leu
XM_006721516.2:c.1481C>T XP_006721579.2:p.Pro494Leu
XM_011523829.1:c.1434+123C>T XP_011522131.1:n.1434+123C>T
XM_011523830.1:c.1434+123C>T XP_011522132.1:n.1434+123C>T
XR_934021.1:n.1588C>T
XR_934022.1:n.1541+123C>T
XR_934023.1:n.1541+123C>T
XM_006721516.3:c.1481C>T XP_006721579.2:p.Pro494Leu
XM_011523829.2:c.1434+123C>T XP_011522131.1:n.1434+123C>T
XM_011523830.2:c.1434+123C>T XP_011522132.1:n.1434+123C>T
XM_024450741.1:c.1434+123C>T XP_024306509.1:n.1434+123C>T
XR_934021.2:n.1540C>T
XR_934022.2:n.1493+123C>T
XR_934023.2:n.1493+123C>T
NM_000018.4:c.1481C>T MANE Select NP_000009.1:p.Pro494Leu
NM_001033859.3:c.1415C>T NP_001029031.1:p.Pro472Leu
NM_001270447.2:c.1550C>T NP_001257376.1:p.Pro517Leu
NM_001270448.2:c.1253C>T NP_001257377.1:p.Pro418Leu
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