Canonical Allele Identifier: CA397725595
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071385060

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224537A>G , CM000679.2:g.7224537A>G GRCh38
NC_000017.10:g.7127856A>G , CM000679.1:g.7127856A>G GRCh37
NC_000017.9:g.7068580A>G NCBI36
NG_007975.1:g.9704A>G
NG_008391.2:g.514T>C
NG_033038.1:g.15008T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1663A>G MANE Select ENSP00000349297.5:p.Lys555Glu
ENST00000322910.9:c.*1618A>G ENSP00000325395.5:n.*1618A>G
ENST00000350303.9:c.1597A>G ENSP00000344152.5:p.Lys533Glu
ENST00000356839.9:c.1663A>G ENSP00000349297.5:p.Lys555Glu
ENST00000542255.6:c.521A>G
ENST00000543245.6:c.1732A>G ENSP00000438689.2:p.Lys578Glu
ENST00000578319.5:n.244A>G
ENST00000578711.1:n.1033A>G
ENST00000578809.5:n.235A>G
ENST00000579391.1:n.267A>G
ENST00000579425.5:n.779A>G
ENST00000579546.1:c.398A>G
ENST00000582450.1:n.171A>G
ENST00000583074.5:n.284A>G
ENST00000583848.5:c.49A>G ENSP00000466487.1:p.Lys17Glu
ENST00000583850.5:n.434A>G
ENST00000583858.5:c.594A>G
ENST00000585203.6:n.854A>G
NM_000018.3:c.1663A>G NP_000009.1:p.Lys555Glu
NM_001033859.2:c.1597A>G NP_001029031.1:p.Lys533Glu
NM_001270447.1:c.1732A>G NP_001257376.1:p.Lys578Glu
NM_001270448.1:c.1435A>G NP_001257377.1:p.Lys479Glu
XM_006721516.2:c.1663A>G XP_006721579.2:p.Lys555Glu
XM_011523829.1:c.1561A>G XP_011522131.1:p.Lys521Glu
XM_011523830.1:c.1561A>G XP_011522132.1:p.Lys521Glu
XR_934021.1:n.1766A>G
XR_934022.1:n.1672A>G
XR_934023.1:n.1672A>G
XM_006721516.3:c.1663A>G XP_006721579.2:p.Lys555Glu
XM_011523829.2:c.1561A>G XP_011522131.1:p.Lys521Glu
XM_011523830.2:c.1561A>G XP_011522132.1:p.Lys521Glu
XM_024450741.1:c.1651A>G XP_024306509.1:p.Lys551Glu
XR_934021.2:n.1718A>G
XR_934022.2:n.1624A>G
XR_934023.2:n.1624A>G
NM_000018.4:c.1663A>G MANE Select NP_000009.1:p.Lys555Glu
NM_001033859.3:c.1597A>G NP_001029031.1:p.Lys533Glu
NM_001270447.2:c.1732A>G NP_001257376.1:p.Lys578Glu
NM_001270448.2:c.1435A>G NP_001257377.1:p.Lys479Glu