Canonical Allele Identifier: CA397725543
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 971019
ClinVar RCV Id: RCV001246701
dbSNP Id: rs2071384107

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224513G>A , CM000679.2:g.7224513G>A GRCh38
NC_000017.10:g.7127832G>A , CM000679.1:g.7127832G>A GRCh37
NC_000017.9:g.7068556G>A NCBI36
NG_007975.1:g.9680G>A
NG_008391.2:g.538C>T
NG_033038.1:g.15032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1639G>A MANE Select ENSP00000349297.5:p.Val547Met
ENST00000322910.9:c.*1594G>A ENSP00000325395.5:n.*1594G>A
ENST00000350303.9:c.1573G>A ENSP00000344152.5:p.Val525Met
ENST00000356839.9:c.1639G>A ENSP00000349297.5:p.Val547Met
ENST00000542255.6:c.497G>A
ENST00000543245.6:c.1708G>A ENSP00000438689.2:p.Val570Met
ENST00000578319.5:n.220G>A
ENST00000578711.1:n.1009G>A
ENST00000578809.5:n.211G>A
ENST00000579391.1:n.243G>A
ENST00000579425.5:n.755G>A
ENST00000579546.1:c.374G>A
ENST00000579894.5:n.426G>A
ENST00000582450.1:n.147G>A
ENST00000583074.5:n.260G>A
ENST00000583848.5:c.25G>A ENSP00000466487.1:p.Val9Met
ENST00000583850.5:n.410G>A
ENST00000583858.5:c.570G>A
ENST00000585203.6:n.830G>A
NM_000018.3:c.1639G>A NP_000009.1:p.Val547Met
NM_001033859.2:c.1573G>A NP_001029031.1:p.Val525Met
NM_001270447.1:c.1708G>A NP_001257376.1:p.Val570Met
NM_001270448.1:c.1411G>A NP_001257377.1:p.Val471Met
XM_006721516.2:c.1639G>A XP_006721579.2:p.Val547Met
XM_011523829.1:c.1537G>A XP_011522131.1:p.Val513Met
XM_011523830.1:c.1537G>A XP_011522132.1:p.Val513Met
XR_934021.1:n.1742G>A
XR_934022.1:n.1648G>A
XR_934023.1:n.1648G>A
XM_006721516.3:c.1639G>A XP_006721579.2:p.Val547Met
XM_011523829.2:c.1537G>A XP_011522131.1:p.Val513Met
XM_011523830.2:c.1537G>A XP_011522132.1:p.Val513Met
XM_024450741.1:c.1627G>A XP_024306509.1:p.Val543Met
XR_934021.2:n.1694G>A
XR_934022.2:n.1600G>A
XR_934023.2:n.1600G>A
NM_000018.4:c.1639G>A MANE Select NP_000009.1:p.Val547Met
NM_001033859.3:c.1573G>A NP_001029031.1:p.Val525Met
NM_001270447.2:c.1708G>A NP_001257376.1:p.Val570Met
NM_001270448.2:c.1411G>A NP_001257377.1:p.Val471Met