Canonical Allele Identifier: CA2808367430
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224273C>G , CM000679.2:g.7224273C>G GRCh38
NC_000017.10:g.7127592C>G , CM000679.1:g.7127592C>G GRCh37
NC_000017.9:g.7068316C>G NCBI36
NG_007975.1:g.9440C>G
NG_008391.2:g.778G>C
NG_033038.1:g.15272G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1532+30C>G MANE Select ENSP00000349297.5:n.1532+30C>G
ENST00000322910.9:c.*1487+30C>G ENSP00000325395.5:n.*1487+30C>G
ENST00000350303.9:c.1466+30C>G ENSP00000344152.5:n.1466+30C>G
ENST00000356839.9:c.1532+30C>G ENSP00000349297.5:n.1532+30C>G
ENST00000542255.6:c.390+30C>G
ENST00000543245.6:c.1601+30C>G ENSP00000438689.2:n.1601+30C>G
ENST00000578319.5:n.27+30C>G
ENST00000578711.1:n.769C>G
ENST00000578809.5:n.57C>G
ENST00000579391.1:n.140+30C>G
ENST00000579425.5:n.648+30C>G
ENST00000579546.1:c.272-48C>G
ENST00000579894.5:n.319+30C>G
ENST00000583074.5:n.154-48C>G
ENST00000583850.5:n.307+30C>G
ENST00000583858.5:c.464-48C>G
ENST00000585203.6:n.723+30C>G
NM_000018.3:c.1532+30C>G NP_000009.1:n.1532+30C>G
NM_001033859.2:c.1466+30C>G NP_001029031.1:n.1466+30C>G
NM_001270447.1:c.1601+30C>G NP_001257376.1:n.1601+30C>G
NM_001270448.1:c.1304+30C>G NP_001257377.1:n.1304+30C>G
XM_006721516.2:c.1532+30C>G XP_006721579.2:n.1532+30C>G
XM_011523829.1:c.1435-48C>G XP_011522131.1:n.1435-48C>G
XM_011523830.1:c.1435-48C>G XP_011522132.1:n.1435-48C>G
XR_934021.1:n.1639+30C>G
XR_934022.1:n.1542-48C>G
XR_934023.1:n.1542-48C>G
XM_006721516.3:c.1532+30C>G XP_006721579.2:n.1532+30C>G
XM_011523829.2:c.1435-48C>G XP_011522131.1:n.1435-48C>G
XM_011523830.2:c.1435-48C>G XP_011522132.1:n.1435-48C>G
XM_024450741.1:c.1435-48C>G XP_024306509.1:n.1435-48C>G
XR_934021.2:n.1591+30C>G
XR_934022.2:n.1494-48C>G
XR_934023.2:n.1494-48C>G
NM_000018.4:c.1532+30C>G MANE Select NP_000009.1:n.1532+30C>G
NM_001033859.3:c.1466+30C>G NP_001029031.1:n.1466+30C>G
NM_001270447.2:c.1601+30C>G NP_001257376.1:n.1601+30C>G
NM_001270448.2:c.1304+30C>G NP_001257377.1:n.1304+30C>G