Canonical Allele Identifier: CA287437701

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2715911
• ClinVar RCV Id: RCV003499152
• dbSNP Id: rs1039438074
• gnomAD v2: 17-7126195-T-A
• gnomAD v3: 17-7222876-T-A
• gnomAD v4: 17-7222876-T-A
• MyVariant Identifiers: chr17:g.7126195T>A (hg19) ; chr17:g.7222876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222876T>A , CM000679.2:g.7222876T>A	GRCh38
NC_000017.10:g.7126195T>A , CM000679.1:g.7126195T>A	GRCh37
NC_000017.9:g.7066919T>A	NCBI36
NG_007975.1:g.8043T>A
NG_008391.2:g.2175A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1077+11T>A MANE Select	ENSP00000349297.5:n.1077+11T>A
ENST00000322910.9:c.*1032+11T>A	ENSP00000325395.5:n.*1032+11T>A
ENST00000350303.9:c.1011+11T>A	ENSP00000344152.5:n.1011+11T>A
ENST00000356839.9:c.1077+11T>A	ENSP00000349297.5:n.1077+11T>A
ENST00000543245.6:c.1146+11T>A	ENSP00000438689.2:n.1146+11T>A
ENST00000578824.5:n.237T>A
ENST00000582379.1:n.472T>A
ENST00000583858.5:c.106+11T>A
ENST00000585203.6:n.29T>A
NM_000018.3:c.1077+11T>A	NP_000009.1:n.1077+11T>A
NM_001033859.2:c.1011+11T>A	NP_001029031.1:n.1011+11T>A
NM_001270447.1:c.1146+11T>A	NP_001257376.1:n.1146+11T>A
NM_001270448.1:c.849+11T>A	NP_001257377.1:n.849+11T>A
XM_006721516.2:c.1077+11T>A	XP_006721579.2:n.1077+11T>A
XM_011523829.1:c.1077+11T>A	XP_011522131.1:n.1077+11T>A
XM_011523830.1:c.1077+11T>A	XP_011522132.1:n.1077+11T>A
XR_934021.1:n.1184+11T>A
XR_934022.1:n.1184+11T>A
XR_934023.1:n.1184+11T>A
XM_006721516.3:c.1077+11T>A	XP_006721579.2:n.1077+11T>A
XM_011523829.2:c.1077+11T>A	XP_011522131.1:n.1077+11T>A
XM_011523830.2:c.1077+11T>A	XP_011522132.1:n.1077+11T>A
XM_024450741.1:c.1077+11T>A	XP_024306509.1:n.1077+11T>A
XR_934021.2:n.1136+11T>A
XR_934022.2:n.1136+11T>A
XR_934023.2:n.1136+11T>A
NM_000018.4:c.1077+11T>A MANE Select	NP_000009.1:n.1077+11T>A
NM_001033859.3:c.1011+11T>A	NP_001029031.1:n.1011+11T>A
NM_001270447.2:c.1146+11T>A	NP_001257376.1:n.1146+11T>A
NM_001270448.2:c.849+11T>A	NP_001257377.1:n.849+11T>A