Canonical Allele Identifier: CA8337980

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1521929
• ClinVar RCV Id: RCV002034163
• dbSNP Id: rs199840831
• ExAC: 17:7126551 A / G
• gnomAD v2: 17-7126551-A-G
• gnomAD v3: 17-7223232-A-G
• gnomAD v4: 17-7223232-A-G
• MyVariant Identifiers: chr17:g.7126551A>G (hg19) ; chr17:g.7223232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223232A>G , CM000679.2:g.7223232A>G	GRCh38
NC_000017.10:g.7126551A>G , CM000679.1:g.7126551A>G	GRCh37
NC_000017.9:g.7067275A>G	NCBI36
NG_007975.1:g.8399A>G
NG_008391.2:g.1819T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1177A>G MANE Select	ENSP00000349297.5:p.Thr393Ala
ENST00000322910.9:c.*1132A>G	ENSP00000325395.5:n.*1132A>G
ENST00000350303.9:c.1111A>G	ENSP00000344152.5:p.Thr371Ala
ENST00000356839.9:c.1177A>G	ENSP00000349297.5:p.Thr393Ala
ENST00000542255.6:c.35A>G
ENST00000543245.6:c.1246A>G	ENSP00000438689.2:p.Thr416Ala
ENST00000578579.2:n.126A>G
ENST00000578824.5:n.593A>G
ENST00000579425.5:n.201A>G
ENST00000579546.1:c.14A>G
ENST00000582379.1:n.828A>G
ENST00000583858.5:c.206A>G
ENST00000585203.6:n.385A>G
NM_000018.3:c.1177A>G	NP_000009.1:p.Thr393Ala
NM_001033859.2:c.1111A>G	NP_001029031.1:p.Thr371Ala
NM_001270447.1:c.1246A>G	NP_001257376.1:p.Thr416Ala
NM_001270448.1:c.949A>G	NP_001257377.1:p.Thr317Ala
XM_006721516.2:c.1177A>G	XP_006721579.2:p.Thr393Ala
XM_011523829.1:c.1177A>G	XP_011522131.1:p.Thr393Ala
XM_011523830.1:c.1177A>G	XP_011522132.1:p.Thr393Ala
XR_934021.1:n.1284A>G
XR_934022.1:n.1284A>G
XR_934023.1:n.1284A>G
XM_006721516.3:c.1177A>G	XP_006721579.2:p.Thr393Ala
XM_011523829.2:c.1177A>G	XP_011522131.1:p.Thr393Ala
XM_011523830.2:c.1177A>G	XP_011522132.1:p.Thr393Ala
XM_024450741.1:c.1177A>G	XP_024306509.1:p.Thr393Ala
XR_934021.2:n.1236A>G
XR_934022.2:n.1236A>G
XR_934023.2:n.1236A>G
NM_000018.4:c.1177A>G MANE Select	NP_000009.1:p.Thr393Ala
NM_001033859.3:c.1111A>G	NP_001029031.1:p.Thr371Ala
NM_001270447.2:c.1246A>G	NP_001257376.1:p.Thr416Ala
NM_001270448.2:c.949A>G	NP_001257377.1:p.Thr317Ala