Canonical Allele Identifier: CA2245714113

Gene: ACADVL

Linked Data

• dbSNP Id: rs1567568573

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224408G>A , CM000679.2:g.7224408G>A	GRCh38
NC_000017.10:g.7127727G>A , CM000679.1:g.7127727G>A	GRCh37
NC_000017.9:g.7068451G>A	NCBI36
NG_007975.1:g.9575G>A
NG_008391.2:g.643C>T
NG_033038.1:g.15137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+15G>A MANE Select	ENSP00000349297.5:n.1605+15G>A
ENST00000322910.9:c.*1560+15G>A	ENSP00000325395.5:n.*1560+15G>A
ENST00000350303.9:c.1539+15G>A	ENSP00000344152.5:n.1539+15G>A
ENST00000356839.9:c.1605+15G>A	ENSP00000349297.5:n.1605+15G>A
ENST00000542255.6:c.463+15G>A
ENST00000543245.6:c.1674+15G>A	ENSP00000438689.2:n.1674+15G>A
ENST00000578319.5:n.115G>A
ENST00000578711.1:n.904G>A
ENST00000578809.5:n.177+15G>A
ENST00000579391.1:n.213+15G>A
ENST00000579425.5:n.721+15G>A
ENST00000579546.1:c.344+15G>A
ENST00000579894.5:n.392+15G>A
ENST00000582450.1:n.113+15G>A
ENST00000583074.5:n.226+15G>A
ENST00000583850.5:n.380+15G>A
ENST00000583858.5:c.536+15G>A
ENST00000585203.6:n.796+15G>A
NM_000018.3:c.1605+15G>A	NP_000009.1:n.1605+15G>A
NM_001033859.2:c.1539+15G>A	NP_001029031.1:n.1539+15G>A
NM_001270447.1:c.1674+15G>A	NP_001257376.1:n.1674+15G>A
NM_001270448.1:c.1377+15G>A	NP_001257377.1:n.1377+15G>A
XM_006721516.2:c.1605+15G>A	XP_006721579.2:n.1605+15G>A
XM_011523829.1:c.1507+15G>A	XP_011522131.1:n.1507+15G>A
XM_011523830.1:c.1507+15G>A	XP_011522132.1:n.1507+15G>A
XR_934021.1:n.1712+15G>A
XR_934022.1:n.1614+15G>A
XR_934023.1:n.1614+15G>A
XM_006721516.3:c.1605+15G>A	XP_006721579.2:n.1605+15G>A
XM_011523829.2:c.1507+15G>A	XP_011522131.1:n.1507+15G>A
XM_011523830.2:c.1507+15G>A	XP_011522132.1:n.1507+15G>A
XM_024450741.1:c.1522G>A	XP_024306509.1:p.Val508Ile
XR_934021.2:n.1664+15G>A
XR_934022.2:n.1566+15G>A
XR_934023.2:n.1566+15G>A
NM_000018.4:c.1605+15G>A MANE Select	NP_000009.1:n.1605+15G>A
NM_001033859.3:c.1539+15G>A	NP_001029031.1:n.1539+15G>A
NM_001270447.2:c.1674+15G>A	NP_001257376.1:n.1674+15G>A
NM_001270448.2:c.1377+15G>A	NP_001257377.1:n.1377+15G>A