Canonical Allele Identifier: CA2581292030

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224399T>G , CM000679.2:g.7224399T>G	GRCh38
NC_000017.10:g.7127718T>G , CM000679.1:g.7127718T>G	GRCh37
NC_000017.9:g.7068442T>G	NCBI36
NG_007975.1:g.9566T>G
NG_008391.2:g.652A>C
NG_033038.1:g.15146A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+6T>G MANE Select	ENSP00000349297.5:n.1605+6T>G
ENST00000322910.9:c.*1560+6T>G	ENSP00000325395.5:n.*1560+6T>G
ENST00000350303.9:c.1539+6T>G	ENSP00000344152.5:n.1539+6T>G
ENST00000356839.9:c.1605+6T>G	ENSP00000349297.5:n.1605+6T>G
ENST00000542255.6:c.463+6T>G
ENST00000543245.6:c.1674+6T>G	ENSP00000438689.2:n.1674+6T>G
ENST00000578319.5:n.106T>G
ENST00000578711.1:n.895T>G
ENST00000578809.5:n.177+6T>G
ENST00000579391.1:n.213+6T>G
ENST00000579425.5:n.721+6T>G
ENST00000579546.1:c.344+6T>G
ENST00000579894.5:n.392+6T>G
ENST00000582450.1:n.113+6T>G
ENST00000583074.5:n.226+6T>G
ENST00000583850.5:n.380+6T>G
ENST00000583858.5:c.536+6T>G
ENST00000585203.6:n.796+6T>G
NM_000018.3:c.1605+6T>G	NP_000009.1:n.1605+6T>G
NM_001033859.2:c.1539+6T>G	NP_001029031.1:n.1539+6T>G
NM_001270447.1:c.1674+6T>G	NP_001257376.1:n.1674+6T>G
NM_001270448.1:c.1377+6T>G	NP_001257377.1:n.1377+6T>G
XM_006721516.2:c.1605+6T>G	XP_006721579.2:n.1605+6T>G
XM_011523829.1:c.1507+6T>G	XP_011522131.1:n.1507+6T>G
XM_011523830.1:c.1507+6T>G	XP_011522132.1:n.1507+6T>G
XR_934021.1:n.1712+6T>G
XR_934022.1:n.1614+6T>G
XR_934023.1:n.1614+6T>G
XM_006721516.3:c.1605+6T>G	XP_006721579.2:n.1605+6T>G
XM_011523829.2:c.1507+6T>G	XP_011522131.1:n.1507+6T>G
XM_011523830.2:c.1507+6T>G	XP_011522132.1:n.1507+6T>G
XM_024450741.1:c.1513T>G	XP_024306509.1:p.Trp505Gly
XR_934021.2:n.1664+6T>G
XR_934022.2:n.1566+6T>G
XR_934023.2:n.1566+6T>G
NM_000018.4:c.1605+6T>G MANE Select	NP_000009.1:n.1605+6T>G
NM_001033859.3:c.1539+6T>G	NP_001029031.1:n.1539+6T>G
NM_001270447.2:c.1674+6T>G	NP_001257376.1:n.1674+6T>G
NM_001270448.2:c.1377+6T>G	NP_001257377.1:n.1377+6T>G