Canonical Allele Identifier: CA8338084

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932822
• ClinVar RCV Id: RCV001200774
• dbSNP Id: rs774376862
• ExAC: 17:7127274 G / A
• gnomAD v2: 17-7127274-G-A
• gnomAD v4: 17-7223955-G-A
• MyVariant Identifiers: chr17:g.7127274G>A (hg19) ; chr17:g.7223955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223955G>A , CM000679.2:g.7223955G>A	GRCh38
NC_000017.10:g.7127274G>A , CM000679.1:g.7127274G>A	GRCh37
NC_000017.9:g.7067998G>A	NCBI36
NG_007975.1:g.9122G>A
NG_008391.2:g.1096C>T
NG_033038.1:g.15590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1333-13G>A MANE Select	ENSP00000349297.5:n.1333-13G>A
ENST00000322910.9:c.*1288-13G>A	ENSP00000325395.5:n.*1288-13G>A
ENST00000350303.9:c.1267-13G>A	ENSP00000344152.5:n.1267-13G>A
ENST00000356839.9:c.1333-13G>A	ENSP00000349297.5:n.1333-13G>A
ENST00000542255.6:c.191-13G>A
ENST00000543245.6:c.1402-13G>A	ENSP00000438689.2:n.1402-13G>A
ENST00000578711.1:n.451G>A
ENST00000579425.5:n.436G>A
ENST00000579546.1:c.170-13G>A
ENST00000579894.5:n.31G>A
ENST00000583074.5:n.52-13G>A
ENST00000583850.5:n.108-13G>A
ENST00000583858.5:c.362-13G>A
ENST00000585203.6:n.524-13G>A
NM_000018.3:c.1333-13G>A	NP_000009.1:n.1333-13G>A
NM_001033859.2:c.1267-13G>A	NP_001029031.1:n.1267-13G>A
NM_001270447.1:c.1402-13G>A	NP_001257376.1:n.1402-13G>A
NM_001270448.1:c.1105-13G>A	NP_001257377.1:n.1105-13G>A
XM_006721516.2:c.1333-13G>A	XP_006721579.2:n.1333-13G>A
XM_011523829.1:c.1333-13G>A	XP_011522131.1:n.1333-13G>A
XM_011523830.1:c.1333-13G>A	XP_011522132.1:n.1333-13G>A
XR_934021.1:n.1440-13G>A
XR_934022.1:n.1440-13G>A
XR_934023.1:n.1440-13G>A
XM_006721516.3:c.1333-13G>A	XP_006721579.2:n.1333-13G>A
XM_011523829.2:c.1333-13G>A	XP_011522131.1:n.1333-13G>A
XM_011523830.2:c.1333-13G>A	XP_011522132.1:n.1333-13G>A
XM_024450741.1:c.1333-13G>A	XP_024306509.1:n.1333-13G>A
XR_934021.2:n.1392-13G>A
XR_934022.2:n.1392-13G>A
XR_934023.2:n.1392-13G>A
NM_000018.4:c.1333-13G>A MANE Select	NP_000009.1:n.1333-13G>A
NM_001033859.3:c.1267-13G>A	NP_001029031.1:n.1267-13G>A
NM_001270447.2:c.1402-13G>A	NP_001257376.1:n.1402-13G>A
NM_001270448.2:c.1105-13G>A	NP_001257377.1:n.1105-13G>A