Canonical Allele Identifier: CA397723639
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071264099
MyVariant Identifiers: chr17:g.7125507T>A (hg19) chr17:g.7222188T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222188T>A , CM000679.2:g.7222188T>A GRCh38
NC_000017.10:g.7125507T>A , CM000679.1:g.7125507T>A GRCh37
NC_000017.9:g.7066231T>A NCBI36
NG_007975.1:g.7355T>A
NG_008391.2:g.2863A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.764T>A MANE Select ENSP00000349297.5:p.Leu255Gln
ENST00000322910.9:c.*719T>A ENSP00000325395.5:n.*719T>A
ENST00000350303.9:c.698T>A ENSP00000344152.5:p.Leu233Gln
ENST00000356839.9:c.764T>A ENSP00000349297.5:p.Leu255Gln
ENST00000543245.6:c.833T>A ENSP00000438689.2:p.Leu278Gln
ENST00000577191.5:n.936T>A
ENST00000581378.5:c.482T>A
ENST00000582379.1:n.148T>A
NM_000018.3:c.764T>A NP_000009.1:p.Leu255Gln
NM_001033859.2:c.698T>A NP_001029031.1:p.Leu233Gln
NM_001270447.1:c.833T>A NP_001257376.1:p.Leu278Gln
NM_001270448.1:c.536T>A NP_001257377.1:p.Leu179Gln
XM_006721516.2:c.764T>A XP_006721579.2:p.Leu255Gln
XM_011523829.1:c.764T>A XP_011522131.1:p.Leu255Gln
XM_011523830.1:c.764T>A XP_011522132.1:p.Leu255Gln
XR_934021.1:n.871T>A
XR_934022.1:n.871T>A
XR_934023.1:n.871T>A
XM_006721516.3:c.764T>A XP_006721579.2:p.Leu255Gln
XM_011523829.2:c.764T>A XP_011522131.1:p.Leu255Gln
XM_011523830.2:c.764T>A XP_011522132.1:p.Leu255Gln
XM_024450741.1:c.764T>A XP_024306509.1:p.Leu255Gln
XR_934021.2:n.823T>A
XR_934022.2:n.823T>A
XR_934023.2:n.823T>A
NM_000018.4:c.764T>A MANE Select NP_000009.1:p.Leu255Gln
NM_001033859.3:c.698T>A NP_001029031.1:p.Leu233Gln
NM_001270447.2:c.833T>A NP_001257376.1:p.Leu278Gln
NM_001270448.2:c.536T>A NP_001257377.1:p.Leu179Gln
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