Canonical Allele Identifier: CA2245715738
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224860G= , CM000679.2:g.7224860G= GRCh38
NC_000017.10:g.7128179G= , CM000679.1:g.7128179G= GRCh37
NC_000017.9:g.7068903G= NCBI36
NG_007975.1:g.10027G=
NG_008391.2:g.191C=
NG_033038.1:g.14685C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1803G= MANE Select ENSP00000349297.5:p.Met601=
ENST00000322910.9:c.*1758G= ENSP00000325395.5:n.*1758G=
ENST00000350303.9:c.1737G= ENSP00000344152.5:p.Met579=
ENST00000356839.9:c.1803G= ENSP00000349297.5:p.Met601=
ENST00000542255.6:c.682G=
ENST00000543245.6:c.1872G= ENSP00000438689.2:p.Met624=
ENST00000578033.1:n.228G=
ENST00000578319.5:n.384G=
ENST00000578711.1:n.1356G=
ENST00000578809.5:n.375G=
ENST00000579425.5:n.919G=
ENST00000579546.1:c.538G=
ENST00000583848.5:c.169G= ENSP00000466487.1:n.169G=
ENST00000583850.5:n.574G=
ENST00000583858.5:c.734G=
NM_000018.3:c.1803G= NP_000009.1:p.Met601=
NM_001033859.2:c.1737G= NP_001029031.1:p.Met579=
NM_001270447.1:c.1872G= NP_001257376.1:p.Met624=
NM_001270448.1:c.1575G= NP_001257377.1:p.Met525=
XM_006721516.2:c.1824G= XP_006721579.2:p.Met608=
XM_011523829.1:c.1722G= XP_011522131.1:p.Met574=
XM_011523830.1:c.1701G= XP_011522132.1:p.Met567=
XR_934021.1:n.1906G=
XR_934022.1:n.1812G=
XR_934023.1:n.1833G=
XM_006721516.3:c.1824G= XP_006721579.2:p.Met608=
XM_011523829.2:c.1722G= XP_011522131.1:p.Met574=
XM_011523830.2:c.1701G= XP_011522132.1:p.Met567=
XM_024450741.1:c.1791G= XP_024306509.1:p.Met597=
XR_934021.2:n.1858G=
XR_934022.2:n.1764G=
XR_934023.2:n.1785G=
NM_000018.4:c.1803G= MANE Select NP_000009.1:p.Met601=
NM_001033859.3:c.1737G= NP_001029031.1:p.Met579=
NM_001270447.2:c.1872G= NP_001257376.1:p.Met624=
NM_001270448.2:c.1575G= NP_001257377.1:p.Met525=