Canonical Allele Identifier: CA2245713365
Gene: ACADVL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224210T= , CM000679.2:g.7224210T= GRCh38
NC_000017.10:g.7127529T= , CM000679.1:g.7127529T= GRCh37
NC_000017.9:g.7068253T= NCBI36
NG_007975.1:g.9377T=
NG_008391.2:g.841A=
NG_033038.1:g.15335A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1499T= MANE Select ENSP00000349297.5:p.Leu500=
ENST00000322910.9:c.*1454T= ENSP00000325395.5:n.*1454T=
ENST00000350303.9:c.1433T= ENSP00000344152.5:p.Leu478=
ENST00000356839.9:c.1499T= ENSP00000349297.5:p.Leu500=
ENST00000542255.6:c.357T=
ENST00000543245.6:c.1568T= ENSP00000438689.2:p.Leu523=
ENST00000578711.1:n.706T=
ENST00000579391.1:n.107T=
ENST00000579425.5:n.615T=
ENST00000579546.1:c.272-111T=
ENST00000579894.5:n.286T=
ENST00000583074.5:n.154-111T=
ENST00000583850.5:n.274T=
ENST00000583858.5:c.464-111T=
ENST00000585203.6:n.690T=
NM_000018.3:c.1499T= NP_000009.1:p.Leu500=
NM_001033859.2:c.1433T= NP_001029031.1:p.Leu478=
NM_001270447.1:c.1568T= NP_001257376.1:p.Leu523=
NM_001270448.1:c.1271T= NP_001257377.1:p.Leu424=
XM_006721516.2:c.1499T= XP_006721579.2:p.Leu500=
XM_011523829.1:c.1435-111T= XP_011522131.1:n.1435-111T=
XM_011523830.1:c.1435-111T= XP_011522132.1:n.1435-111T=
XR_934021.1:n.1606T=
XR_934022.1:n.1542-111T=
XR_934023.1:n.1542-111T=
XM_006721516.3:c.1499T= XP_006721579.2:p.Leu500=
XM_011523829.2:c.1435-111T= XP_011522131.1:n.1435-111T=
XM_011523830.2:c.1435-111T= XP_011522132.1:n.1435-111T=
XM_024450741.1:c.1435-111T= XP_024306509.1:n.1435-111T=
XR_934021.2:n.1558T=
XR_934022.2:n.1494-111T=
XR_934023.2:n.1494-111T=
NM_000018.4:c.1499T= MANE Select NP_000009.1:p.Leu500=
NM_001033859.3:c.1433T= NP_001029031.1:p.Leu478=
NM_001270447.2:c.1568T= NP_001257376.1:p.Leu523=
NM_001270448.2:c.1271T= NP_001257377.1:p.Leu424=
Search 100 bp 5'
Search 100 bp 3'