Canonical Allele Identifier: CA397725106

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127389G>A (hg19) ; chr17:g.7224070G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224070G>A , CM000679.2:g.7224070G>A	GRCh38
NC_000017.10:g.7127389G>A , CM000679.1:g.7127389G>A	GRCh37
NC_000017.9:g.7068113G>A	NCBI36
NG_007975.1:g.9237G>A
NG_008391.2:g.981C>T
NG_033038.1:g.15475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1434+1G>A MANE Select	ENSP00000349297.5:n.1434+1G>A
ENST00000322910.9:c.*1389+1G>A	ENSP00000325395.5:n.*1389+1G>A
ENST00000350303.9:c.1368+1G>A	ENSP00000344152.5:n.1368+1G>A
ENST00000356839.9:c.1434+1G>A	ENSP00000349297.5:n.1434+1G>A
ENST00000542255.6:c.292+1G>A
ENST00000543245.6:c.1503+1G>A	ENSP00000438689.2:n.1503+1G>A
ENST00000578711.1:n.566G>A
ENST00000579425.5:n.550+1G>A
ENST00000579546.1:c.271+1G>A
ENST00000579894.5:n.146G>A
ENST00000583074.5:n.153+1G>A
ENST00000583850.5:n.209+1G>A
ENST00000583858.5:c.463+1G>A
ENST00000585203.6:n.625+1G>A
NM_000018.3:c.1434+1G>A	NP_000009.1:n.1434+1G>A
NM_001033859.2:c.1368+1G>A	NP_001029031.1:n.1368+1G>A
NM_001270447.1:c.1503+1G>A	NP_001257376.1:n.1503+1G>A
NM_001270448.1:c.1206+1G>A	NP_001257377.1:n.1206+1G>A
XM_006721516.2:c.1434+1G>A	XP_006721579.2:n.1434+1G>A
XM_011523829.1:c.1434+1G>A	XP_011522131.1:n.1434+1G>A
XM_011523830.1:c.1434+1G>A	XP_011522132.1:n.1434+1G>A
XR_934021.1:n.1541+1G>A
XR_934022.1:n.1541+1G>A
XR_934023.1:n.1541+1G>A
XM_006721516.3:c.1434+1G>A	XP_006721579.2:n.1434+1G>A
XM_011523829.2:c.1434+1G>A	XP_011522131.1:n.1434+1G>A
XM_011523830.2:c.1434+1G>A	XP_011522132.1:n.1434+1G>A
XM_024450741.1:c.1434+1G>A	XP_024306509.1:n.1434+1G>A
XR_934021.2:n.1493+1G>A
XR_934022.2:n.1493+1G>A
XR_934023.2:n.1493+1G>A
NM_000018.4:c.1434+1G>A MANE Select	NP_000009.1:n.1434+1G>A
NM_001033859.3:c.1368+1G>A	NP_001029031.1:n.1368+1G>A
NM_001270447.2:c.1503+1G>A	NP_001257376.1:n.1503+1G>A
NM_001270448.2:c.1206+1G>A	NP_001257377.1:n.1206+1G>A