Canonical Allele Identifier: CA2245715941
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224925T= , CM000679.2:g.7224925T= GRCh38
NC_000017.10:g.7128244T= , CM000679.1:g.7128244T= GRCh37
NC_000017.9:g.7068968T= NCBI36
NG_007975.1:g.10092T=
NG_008391.2:g.126A=
NG_033038.1:g.14620A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1828-32T= MANE Select ENSP00000349297.5:n.1828-32T=
ENST00000322910.9:c.*1783-32T= ENSP00000325395.5:n.*1783-32T=
ENST00000350303.9:c.1762-32T= ENSP00000344152.5:n.1762-32T=
ENST00000356839.9:c.1828-32T= ENSP00000349297.5:n.1828-32T=
ENST00000542255.6:c.707-32T=
ENST00000543245.6:c.1897-32T= ENSP00000438689.2:n.1897-32T=
ENST00000578033.1:n.253-32T=
ENST00000578319.5:n.409-32T=
ENST00000578711.1:n.1421T=
ENST00000578809.5:n.400-32T=
ENST00000579425.5:n.944-32T=
ENST00000579546.1:c.563-32T=
ENST00000583848.5:c.194-32T= ENSP00000466487.1:n.194-32T=
ENST00000583850.5:n.599-32T=
ENST00000583858.5:c.759-32T=
NM_000018.3:c.1828-32T= NP_000009.1:n.1828-32T=
NM_001033859.2:c.1762-32T= NP_001029031.1:n.1762-32T=
NM_001270447.1:c.1897-32T= NP_001257376.1:n.1897-32T=
NM_001270448.1:c.1600-32T= NP_001257377.1:n.1600-32T=
XM_006721516.2:c.1849-32T= XP_006721579.2:n.1849-32T=
XM_011523829.1:c.1747-32T= XP_011522131.1:n.1747-32T=
XM_011523830.1:c.1726-32T= XP_011522132.1:n.1726-32T=
XR_934021.1:n.1931-32T=
XR_934022.1:n.1837-32T=
XR_934023.1:n.1858-32T=
XM_006721516.3:c.1849-32T= XP_006721579.2:n.1849-32T=
XM_011523829.2:c.1747-32T= XP_011522131.1:n.1747-32T=
XM_011523830.2:c.1726-32T= XP_011522132.1:n.1726-32T=
XM_024450741.1:c.1816-32T= XP_024306509.1:n.1816-32T=
XR_934021.2:n.1883-32T=
XR_934022.2:n.1789-32T=
XR_934023.2:n.1810-32T=
NM_000018.4:c.1828-32T= MANE Select NP_000009.1:n.1828-32T=
NM_001033859.3:c.1762-32T= NP_001029031.1:n.1762-32T=
NM_001270447.2:c.1897-32T= NP_001257376.1:n.1897-32T=
NM_001270448.2:c.1600-32T= NP_001257377.1:n.1600-32T=