Canonical Allele Identifier: CA624860722

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 541728
• ClinVar RCV Id: RCV000652049
• dbSNP Id: rs534469222
• gnomAD v2: 17-7127569-T-A
• gnomAD v4: 17-7224250-T-A
• MyVariant Identifiers: chr17:g.7127569T>A (hg19) ; chr17:g.7224250T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224250T>A , CM000679.2:g.7224250T>A	GRCh38
NC_000017.10:g.7127569T>A , CM000679.1:g.7127569T>A	GRCh37
NC_000017.9:g.7068293T>A	NCBI36
NG_007975.1:g.9417T>A
NG_008391.2:g.801A>T
NG_033038.1:g.15295A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1532+7T>A MANE Select	ENSP00000349297.5:n.1532+7T>A
ENST00000322910.9:c.*1487+7T>A	ENSP00000325395.5:n.*1487+7T>A
ENST00000350303.9:c.1466+7T>A	ENSP00000344152.5:n.1466+7T>A
ENST00000356839.9:c.1532+7T>A	ENSP00000349297.5:n.1532+7T>A
ENST00000542255.6:c.390+7T>A
ENST00000543245.6:c.1601+7T>A	ENSP00000438689.2:n.1601+7T>A
ENST00000578319.5:n.27+7T>A
ENST00000578711.1:n.746T>A
ENST00000578809.5:n.34T>A
ENST00000579391.1:n.140+7T>A
ENST00000579425.5:n.648+7T>A
ENST00000579546.1:c.272-71T>A
ENST00000579894.5:n.319+7T>A
ENST00000583074.5:n.154-71T>A
ENST00000583850.5:n.307+7T>A
ENST00000583858.5:c.464-71T>A
ENST00000585203.6:n.723+7T>A
NM_000018.3:c.1532+7T>A	NP_000009.1:n.1532+7T>A
NM_001033859.2:c.1466+7T>A	NP_001029031.1:n.1466+7T>A
NM_001270447.1:c.1601+7T>A	NP_001257376.1:n.1601+7T>A
NM_001270448.1:c.1304+7T>A	NP_001257377.1:n.1304+7T>A
XM_006721516.2:c.1532+7T>A	XP_006721579.2:n.1532+7T>A
XM_011523829.1:c.1435-71T>A	XP_011522131.1:n.1435-71T>A
XM_011523830.1:c.1435-71T>A	XP_011522132.1:n.1435-71T>A
XR_934021.1:n.1639+7T>A
XR_934022.1:n.1542-71T>A
XR_934023.1:n.1542-71T>A
XM_006721516.3:c.1532+7T>A	XP_006721579.2:n.1532+7T>A
XM_011523829.2:c.1435-71T>A	XP_011522131.1:n.1435-71T>A
XM_011523830.2:c.1435-71T>A	XP_011522132.1:n.1435-71T>A
XM_024450741.1:c.1435-71T>A	XP_024306509.1:n.1435-71T>A
XR_934021.2:n.1591+7T>A
XR_934022.2:n.1494-71T>A
XR_934023.2:n.1494-71T>A
NM_000018.4:c.1532+7T>A MANE Select	NP_000009.1:n.1532+7T>A
NM_001033859.3:c.1466+7T>A	NP_001029031.1:n.1466+7T>A
NM_001270447.2:c.1601+7T>A	NP_001257376.1:n.1601+7T>A
NM_001270448.2:c.1304+7T>A	NP_001257377.1:n.1304+7T>A