Canonical Allele Identifier: CA397725074
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127375T>A (hg19) chr17:g.7224056T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224056T>A , CM000679.2:g.7224056T>A GRCh38
NC_000017.10:g.7127375T>A , CM000679.1:g.7127375T>A GRCh37
NC_000017.9:g.7068099T>A NCBI36
NG_007975.1:g.9223T>A
NG_008391.2:g.995A>T
NG_033038.1:g.15489A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1421T>A MANE Select ENSP00000349297.5:p.Leu474Gln
ENST00000322910.9:c.*1376T>A ENSP00000325395.5:n.*1376T>A
ENST00000350303.9:c.1355T>A ENSP00000344152.5:p.Leu452Gln
ENST00000356839.9:c.1421T>A ENSP00000349297.5:p.Leu474Gln
ENST00000542255.6:c.279T>A
ENST00000543245.6:c.1490T>A ENSP00000438689.2:p.Leu497Gln
ENST00000578711.1:n.552T>A
ENST00000579425.5:n.537T>A
ENST00000579546.1:c.258T>A
ENST00000579894.5:n.132T>A
ENST00000583074.5:n.140T>A
ENST00000583850.5:n.196T>A
ENST00000583858.5:c.450T>A
ENST00000585203.6:n.612T>A
NM_000018.3:c.1421T>A NP_000009.1:p.Leu474Gln
NM_001033859.2:c.1355T>A NP_001029031.1:p.Leu452Gln
NM_001270447.1:c.1490T>A NP_001257376.1:p.Leu497Gln
NM_001270448.1:c.1193T>A NP_001257377.1:p.Leu398Gln
XM_006721516.2:c.1421T>A XP_006721579.2:p.Leu474Gln
XM_011523829.1:c.1421T>A XP_011522131.1:p.Leu474Gln
XM_011523830.1:c.1421T>A XP_011522132.1:p.Leu474Gln
XR_934021.1:n.1528T>A
XR_934022.1:n.1528T>A
XR_934023.1:n.1528T>A
XM_006721516.3:c.1421T>A XP_006721579.2:p.Leu474Gln
XM_011523829.2:c.1421T>A XP_011522131.1:p.Leu474Gln
XM_011523830.2:c.1421T>A XP_011522132.1:p.Leu474Gln
XM_024450741.1:c.1421T>A XP_024306509.1:p.Leu474Gln
XR_934021.2:n.1480T>A
XR_934022.2:n.1480T>A
XR_934023.2:n.1480T>A
NM_000018.4:c.1421T>A MANE Select NP_000009.1:p.Leu474Gln
NM_001033859.3:c.1355T>A NP_001029031.1:p.Leu452Gln
NM_001270447.2:c.1490T>A NP_001257376.1:p.Leu497Gln
NM_001270448.2:c.1193T>A NP_001257377.1:p.Leu398Gln
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