Canonical Allele Identifier: CA2245714769
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224595T= , CM000679.2:g.7224595T= GRCh38
NC_000017.10:g.7127914T= , CM000679.1:g.7127914T= GRCh37
NC_000017.9:g.7068638T= NCBI36
NG_007975.1:g.9762T=
NG_008391.2:g.456A=
NG_033038.1:g.14950A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1678+43T= MANE Select ENSP00000349297.5:n.1678+43T=
ENST00000322910.9:c.*1633+43T= ENSP00000325395.5:n.*1633+43T=
ENST00000350303.9:c.1612+43T= ENSP00000344152.5:n.1612+43T=
ENST00000356839.9:c.1678+43T= ENSP00000349297.5:n.1678+43T=
ENST00000542255.6:c.536+43T=
ENST00000543245.6:c.1747+43T= ENSP00000438689.2:n.1747+43T=
ENST00000578319.5:n.259+43T=
ENST00000578711.1:n.1091T=
ENST00000578809.5:n.250+43T=
ENST00000579391.1:n.325T=
ENST00000579425.5:n.794+43T=
ENST00000579546.1:c.413+43T=
ENST00000582450.1:n.229T=
ENST00000583074.5:n.299+43T=
ENST00000583848.5:c.64+43T= ENSP00000466487.1:n.64+43T=
ENST00000583850.5:n.449+43T=
ENST00000583858.5:c.609+43T=
ENST00000585203.6:n.869+43T=
NM_000018.3:c.1678+43T= NP_000009.1:n.1678+43T=
NM_001033859.2:c.1612+43T= NP_001029031.1:n.1612+43T=
NM_001270447.1:c.1747+43T= NP_001257376.1:n.1747+43T=
NM_001270448.1:c.1450+43T= NP_001257377.1:n.1450+43T=
XM_006721516.2:c.1678+43T= XP_006721579.2:n.1678+43T=
XM_011523829.1:c.1576+43T= XP_011522131.1:n.1576+43T=
XM_011523830.1:c.1576+43T= XP_011522132.1:n.1576+43T=
XR_934021.1:n.1781+43T=
XR_934022.1:n.1687+43T=
XR_934023.1:n.1687+43T=
XM_006721516.3:c.1678+43T= XP_006721579.2:n.1678+43T=
XM_011523829.2:c.1576+43T= XP_011522131.1:n.1576+43T=
XM_011523830.2:c.1576+43T= XP_011522132.1:n.1576+43T=
XM_024450741.1:c.1666+43T= XP_024306509.1:n.1666+43T=
XR_934021.2:n.1733+43T=
XR_934022.2:n.1639+43T=
XR_934023.2:n.1639+43T=
NM_000018.4:c.1678+43T= MANE Select NP_000009.1:n.1678+43T=
NM_001033859.3:c.1612+43T= NP_001029031.1:n.1612+43T=
NM_001270447.2:c.1747+43T= NP_001257376.1:n.1747+43T=
NM_001270448.2:c.1450+43T= NP_001257377.1:n.1450+43T=