Canonical Allele Identifier: CA2245711883
Gene: ACADVL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223795T= , CM000679.2:g.7223795T= GRCh38
NC_000017.10:g.7127114T= , CM000679.1:g.7127114T= GRCh37
NC_000017.9:g.7067838T= NCBI36
NG_007975.1:g.8962T=
NG_008391.2:g.1256A=
NG_033038.1:g.15750A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1270-18T= MANE Select ENSP00000349297.5:n.1270-18T=
ENST00000322910.9:c.*1225-18T= ENSP00000325395.5:n.*1225-18T=
ENST00000350303.9:c.1204-18T= ENSP00000344152.5:n.1204-18T=
ENST00000356839.9:c.1270-18T= ENSP00000349297.5:n.1270-18T=
ENST00000542255.6:c.128-18T=
ENST00000543245.6:c.1339-18T= ENSP00000438689.2:n.1339-18T=
ENST00000578579.2:n.441-18T=
ENST00000578711.1:n.291T=
ENST00000578824.5:n.686-18T=
ENST00000579425.5:n.294-18T=
ENST00000579546.1:c.107-18T=
ENST00000583850.5:n.45-18T=
ENST00000583858.5:c.299-18T=
ENST00000585203.6:n.478-18T=
NM_000018.3:c.1270-18T= NP_000009.1:n.1270-18T=
NM_001033859.2:c.1204-18T= NP_001029031.1:n.1204-18T=
NM_001270447.1:c.1339-18T= NP_001257376.1:n.1339-18T=
NM_001270448.1:c.1042-18T= NP_001257377.1:n.1042-18T=
XM_006721516.2:c.1270-18T= XP_006721579.2:n.1270-18T=
XM_011523829.1:c.1270-18T= XP_011522131.1:n.1270-18T=
XM_011523830.1:c.1270-18T= XP_011522132.1:n.1270-18T=
XR_934021.1:n.1377-18T=
XR_934022.1:n.1377-18T=
XR_934023.1:n.1377-18T=
XM_006721516.3:c.1270-18T= XP_006721579.2:n.1270-18T=
XM_011523829.2:c.1270-18T= XP_011522131.1:n.1270-18T=
XM_011523830.2:c.1270-18T= XP_011522132.1:n.1270-18T=
XM_024450741.1:c.1270-18T= XP_024306509.1:n.1270-18T=
XR_934021.2:n.1329-18T=
XR_934022.2:n.1329-18T=
XR_934023.2:n.1329-18T=
NM_000018.4:c.1270-18T= MANE Select NP_000009.1:n.1270-18T=
NM_001033859.3:c.1204-18T= NP_001029031.1:n.1204-18T=
NM_001270447.2:c.1339-18T= NP_001257376.1:n.1339-18T=
NM_001270448.2:c.1042-18T= NP_001257377.1:n.1042-18T=
Search 100 bp 5'
Search 100 bp 3'