Canonical Allele Identifier: CA2841827573

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224736G>T , CM000679.2:g.7224736G>T	GRCh38
NC_000017.10:g.7128055G>T , CM000679.1:g.7128055G>T	GRCh37
NC_000017.9:g.7068779G>T	NCBI36
NG_007975.1:g.9903G>T
NG_008391.2:g.315C>A
NG_033038.1:g.14809C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+22G>T MANE Select	ENSP00000349297.5:n.1751+22G>T
ENST00000322910.9:c.*1706+22G>T	ENSP00000325395.5:n.*1706+22G>T
ENST00000350303.9:c.1685+22G>T	ENSP00000344152.5:n.1685+22G>T
ENST00000356839.9:c.1751+22G>T	ENSP00000349297.5:n.1751+22G>T
ENST00000542255.6:c.558G>T
ENST00000543245.6:c.1820+22G>T	ENSP00000438689.2:n.1820+22G>T
ENST00000578033.1:n.104G>T
ENST00000578319.5:n.332+22G>T
ENST00000578711.1:n.1232G>T
ENST00000578809.5:n.323+22G>T
ENST00000579425.5:n.867+22G>T
ENST00000579546.1:c.486+22G>T
ENST00000583074.5:n.321G>T
ENST00000583848.5:c.117+22G>T	ENSP00000466487.1:n.117+22G>T
ENST00000583850.5:n.522+22G>T
ENST00000583858.5:c.682+22G>T
ENST00000585203.6:n.942+22G>T
NM_000018.3:c.1751+22G>T	NP_000009.1:n.1751+22G>T
NM_001033859.2:c.1685+22G>T	NP_001029031.1:n.1685+22G>T
NM_001270447.1:c.1820+22G>T	NP_001257376.1:n.1820+22G>T
NM_001270448.1:c.1523+22G>T	NP_001257377.1:n.1523+22G>T
XM_006721516.2:c.1700G>T	XP_006721579.2:p.Cys567Phe
XM_011523829.1:c.1598G>T	XP_011522131.1:p.Cys533Phe
XM_011523830.1:c.1649+22G>T	XP_011522132.1:n.1649+22G>T
XR_934021.1:n.1854+22G>T
XR_934022.1:n.1760+22G>T
XR_934023.1:n.1709G>T
XM_006721516.3:c.1700G>T	XP_006721579.2:p.Cys567Phe
XM_011523829.2:c.1598G>T	XP_011522131.1:p.Cys533Phe
XM_011523830.2:c.1649+22G>T	XP_011522132.1:n.1649+22G>T
XM_024450741.1:c.1739+22G>T	XP_024306509.1:n.1739+22G>T
XR_934021.2:n.1806+22G>T
XR_934022.2:n.1712+22G>T
XR_934023.2:n.1661G>T
NM_000018.4:c.1751+22G>T MANE Select	NP_000009.1:n.1751+22G>T
NM_001033859.3:c.1685+22G>T	NP_001029031.1:n.1685+22G>T
NM_001270447.2:c.1820+22G>T	NP_001257376.1:n.1820+22G>T
NM_001270448.2:c.1523+22G>T	NP_001257377.1:n.1523+22G>T