Canonical Allele Identifier: CA2635786688
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224771-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224771C>G , CM000679.2:g.7224771C>G GRCh38
NC_000017.10:g.7128090C>G , CM000679.1:g.7128090C>G GRCh37
NC_000017.9:g.7068814C>G NCBI36
NG_007975.1:g.9938C>G
NG_008391.2:g.280G>C
NG_033038.1:g.14774G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1752-38C>G MANE Select ENSP00000349297.5:n.1752-38C>G
ENST00000322910.9:c.*1707-38C>G ENSP00000325395.5:n.*1707-38C>G
ENST00000350303.9:c.1686-38C>G ENSP00000344152.5:n.1686-38C>G
ENST00000356839.9:c.1752-38C>G ENSP00000349297.5:n.1752-38C>G
ENST00000542255.6:c.593C>G
ENST00000543245.6:c.1821-38C>G ENSP00000438689.2:n.1821-38C>G
ENST00000578033.1:n.139C>G
ENST00000578319.5:n.333-38C>G
ENST00000578711.1:n.1267C>G
ENST00000578809.5:n.324-38C>G
ENST00000579425.5:n.868-38C>G
ENST00000579546.1:c.487-38C>G
ENST00000583074.5:n.356C>G
ENST00000583848.5:c.118-38C>G ENSP00000466487.1:n.118-38C>G
ENST00000583850.5:n.523-38C>G
ENST00000583858.5:c.683-38C>G
ENST00000585203.6:n.943-38C>G
NM_000018.3:c.1752-38C>G NP_000009.1:n.1752-38C>G
NM_001033859.2:c.1686-38C>G NP_001029031.1:n.1686-38C>G
NM_001270447.1:c.1821-38C>G NP_001257376.1:n.1821-38C>G
NM_001270448.1:c.1524-38C>G NP_001257377.1:n.1524-38C>G
XM_006721516.2:c.1735C>G XP_006721579.2:p.Pro579Ala
XM_011523829.1:c.1633C>G XP_011522131.1:p.Pro545Ala
XM_011523830.1:c.1650-38C>G XP_011522132.1:n.1650-38C>G
XR_934021.1:n.1855-38C>G
XR_934022.1:n.1761-38C>G
XR_934023.1:n.1744C>G
XM_006721516.3:c.1735C>G XP_006721579.2:p.Pro579Ala
XM_011523829.2:c.1633C>G XP_011522131.1:p.Pro545Ala
XM_011523830.2:c.1650-38C>G XP_011522132.1:n.1650-38C>G
XM_024450741.1:c.1740-38C>G XP_024306509.1:n.1740-38C>G
XR_934021.2:n.1807-38C>G
XR_934022.2:n.1713-38C>G
XR_934023.2:n.1696C>G
NM_000018.4:c.1752-38C>G MANE Select NP_000009.1:n.1752-38C>G
NM_001033859.3:c.1686-38C>G NP_001029031.1:n.1686-38C>G
NM_001270447.2:c.1821-38C>G NP_001257376.1:n.1821-38C>G
NM_001270448.2:c.1524-38C>G NP_001257377.1:n.1524-38C>G