Canonical Allele Identifier: CA2245715384

Gene: ACADVL

Linked Data

• dbSNP Id: rs1597539813

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224753C>G , CM000679.2:g.7224753C>G	GRCh38
NC_000017.10:g.7128072C>G , CM000679.1:g.7128072C>G	GRCh37
NC_000017.9:g.7068796C>G	NCBI36
NG_007975.1:g.9920C>G
NG_008391.2:g.298G>C
NG_033038.1:g.14792G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+39C>G MANE Select	ENSP00000349297.5:n.1751+39C>G
ENST00000322910.9:c.*1706+39C>G	ENSP00000325395.5:n.*1706+39C>G
ENST00000350303.9:c.1685+39C>G	ENSP00000344152.5:n.1685+39C>G
ENST00000356839.9:c.1751+39C>G	ENSP00000349297.5:n.1751+39C>G
ENST00000542255.6:c.575C>G
ENST00000543245.6:c.1820+39C>G	ENSP00000438689.2:n.1820+39C>G
ENST00000578033.1:n.121C>G
ENST00000578319.5:n.332+39C>G
ENST00000578711.1:n.1249C>G
ENST00000578809.5:n.323+39C>G
ENST00000579425.5:n.867+39C>G
ENST00000579546.1:c.486+39C>G
ENST00000583074.5:n.338C>G
ENST00000583848.5:c.117+39C>G	ENSP00000466487.1:n.117+39C>G
ENST00000583850.5:n.522+39C>G
ENST00000583858.5:c.682+39C>G
ENST00000585203.6:n.942+39C>G
NM_000018.3:c.1751+39C>G	NP_000009.1:n.1751+39C>G
NM_001033859.2:c.1685+39C>G	NP_001029031.1:n.1685+39C>G
NM_001270447.1:c.1820+39C>G	NP_001257376.1:n.1820+39C>G
NM_001270448.1:c.1523+39C>G	NP_001257377.1:n.1523+39C>G
XM_006721516.2:c.1717C>G	XP_006721579.2:p.Pro573Ala
XM_011523829.1:c.1615C>G	XP_011522131.1:p.Pro539Ala
XM_011523830.1:c.1649+39C>G	XP_011522132.1:n.1649+39C>G
XR_934021.1:n.1854+39C>G
XR_934022.1:n.1760+39C>G
XR_934023.1:n.1726C>G
XM_006721516.3:c.1717C>G	XP_006721579.2:p.Pro573Ala
XM_011523829.2:c.1615C>G	XP_011522131.1:p.Pro539Ala
XM_011523830.2:c.1649+39C>G	XP_011522132.1:n.1649+39C>G
XM_024450741.1:c.1739+39C>G	XP_024306509.1:n.1739+39C>G
XR_934021.2:n.1806+39C>G
XR_934022.2:n.1712+39C>G
XR_934023.2:n.1678C>G
NM_000018.4:c.1751+39C>G MANE Select	NP_000009.1:n.1751+39C>G
NM_001033859.3:c.1685+39C>G	NP_001029031.1:n.1685+39C>G
NM_001270447.2:c.1820+39C>G	NP_001257376.1:n.1820+39C>G
NM_001270448.2:c.1523+39C>G	NP_001257377.1:n.1523+39C>G