Canonical Allele Identifier: CA397725596
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1663A>T MANE Select ENSP00000349297.5:p.Lys555Ter
ENST00000322910.9:c.*1618A>T ENSP00000325395.5:n.*1618A>T
ENST00000350303.9:c.1597A>T ENSP00000344152.5:p.Lys533Ter
ENST00000356839.9:c.1663A>T ENSP00000349297.5:p.Lys555Ter
ENST00000542255.6:c.521A>T
ENST00000543245.6:c.1732A>T ENSP00000438689.2:p.Lys578Ter
ENST00000578319.5:n.244A>T
ENST00000578711.1:n.1033A>T
ENST00000578809.5:n.235A>T
ENST00000579391.1:n.267A>T
ENST00000579425.5:n.779A>T
ENST00000579546.1:c.398A>T
ENST00000582450.1:n.171A>T
ENST00000583074.5:n.284A>T
ENST00000583848.5:c.49A>T ENSP00000466487.1:p.Lys17Ter
ENST00000583850.5:n.434A>T
ENST00000583858.5:c.594A>T
ENST00000585203.6:n.854A>T
NM_000018.3:c.1663A>T NP_000009.1:p.Lys555Ter
NM_001033859.2:c.1597A>T NP_001029031.1:p.Lys533Ter
NM_001270447.1:c.1732A>T NP_001257376.1:p.Lys578Ter
NM_001270448.1:c.1435A>T NP_001257377.1:p.Lys479Ter
XM_006721516.2:c.1663A>T XP_006721579.2:p.Lys555Ter
XM_011523829.1:c.1561A>T XP_011522131.1:p.Lys521Ter
XM_011523830.1:c.1561A>T XP_011522132.1:p.Lys521Ter
XR_934021.1:n.1766A>T
XR_934022.1:n.1672A>T
XR_934023.1:n.1672A>T
XM_006721516.3:c.1663A>T XP_006721579.2:p.Lys555Ter
XM_011523829.2:c.1561A>T XP_011522131.1:p.Lys521Ter
XM_011523830.2:c.1561A>T XP_011522132.1:p.Lys521Ter
XM_024450741.1:c.1651A>T XP_024306509.1:p.Lys551Ter
XR_934021.2:n.1718A>T
XR_934022.2:n.1624A>T
XR_934023.2:n.1624A>T
NM_000018.4:c.1663A>T MANE Select NP_000009.1:p.Lys555Ter
NM_001033859.3:c.1597A>T NP_001029031.1:p.Lys533Ter
NM_001270447.2:c.1732A>T NP_001257376.1:p.Lys578Ter
NM_001270448.2:c.1435A>T NP_001257377.1:p.Lys479Ter