Canonical Allele Identifier: CA397724485

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2165354
• ClinVar RCV Id: RCV003084329
• dbSNP Id: rs2142982448
• gnomAD v3: 17-7223217-A-T
• gnomAD v4: 17-7223217-A-T
• MyVariant Identifiers: chr17:g.7126536A>T (hg19) ; chr17:g.7223217A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223217A>T , CM000679.2:g.7223217A>T	GRCh38
NC_000017.10:g.7126536A>T , CM000679.1:g.7126536A>T	GRCh37
NC_000017.9:g.7067260A>T	NCBI36
NG_007975.1:g.8384A>T
NG_008391.2:g.1834T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1162A>T MANE Select	ENSP00000349297.5:p.Met388Leu
ENST00000322910.9:c.*1117A>T	ENSP00000325395.5:n.*1117A>T
ENST00000350303.9:c.1096A>T	ENSP00000344152.5:p.Met366Leu
ENST00000356839.9:c.1162A>T	ENSP00000349297.5:p.Met388Leu
ENST00000542255.6:c.20A>T
ENST00000543245.6:c.1231A>T	ENSP00000438689.2:p.Met411Leu
ENST00000578579.2:n.111A>T
ENST00000578824.5:n.578A>T
ENST00000579425.5:n.186A>T
ENST00000582379.1:n.813A>T
ENST00000583858.5:c.191A>T
ENST00000585203.6:n.370A>T
NM_000018.3:c.1162A>T	NP_000009.1:p.Met388Leu
NM_001033859.2:c.1096A>T	NP_001029031.1:p.Met366Leu
NM_001270447.1:c.1231A>T	NP_001257376.1:p.Met411Leu
NM_001270448.1:c.934A>T	NP_001257377.1:p.Met312Leu
XM_006721516.2:c.1162A>T	XP_006721579.2:p.Met388Leu
XM_011523829.1:c.1162A>T	XP_011522131.1:p.Met388Leu
XM_011523830.1:c.1162A>T	XP_011522132.1:p.Met388Leu
XR_934021.1:n.1269A>T
XR_934022.1:n.1269A>T
XR_934023.1:n.1269A>T
XM_006721516.3:c.1162A>T	XP_006721579.2:p.Met388Leu
XM_011523829.2:c.1162A>T	XP_011522131.1:p.Met388Leu
XM_011523830.2:c.1162A>T	XP_011522132.1:p.Met388Leu
XM_024450741.1:c.1162A>T	XP_024306509.1:p.Met388Leu
XR_934021.2:n.1221A>T
XR_934022.2:n.1221A>T
XR_934023.2:n.1221A>T
NM_000018.4:c.1162A>T MANE Select	NP_000009.1:p.Met388Leu
NM_001033859.3:c.1096A>T	NP_001029031.1:p.Met366Leu
NM_001270447.2:c.1231A>T	NP_001257376.1:p.Met411Leu
NM_001270448.2:c.934A>T	NP_001257377.1:p.Met312Leu