Canonical Allele Identifier: CA397725017

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 474886
• ClinVar RCV Id: RCV000531461
• dbSNP Id: rs1555528796
• gnomAD v4: 17-7224026-C-T
• MyVariant Identifiers: chr17:g.7127345C>T (hg19) ; chr17:g.7224026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224026C>T , CM000679.2:g.7224026C>T	GRCh38
NC_000017.10:g.7127345C>T , CM000679.1:g.7127345C>T	GRCh37
NC_000017.9:g.7068069C>T	NCBI36
NG_007975.1:g.9193C>T
NG_008391.2:g.1025G>A
NG_033038.1:g.15519G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1391C>T MANE Select	ENSP00000349297.5:p.Thr464Ile
ENST00000322910.9:c.*1346C>T	ENSP00000325395.5:n.*1346C>T
ENST00000350303.9:c.1325C>T	ENSP00000344152.5:p.Thr442Ile
ENST00000356839.9:c.1391C>T	ENSP00000349297.5:p.Thr464Ile
ENST00000542255.6:c.249C>T
ENST00000543245.6:c.1460C>T	ENSP00000438689.2:p.Thr487Ile
ENST00000578711.1:n.522C>T
ENST00000579425.5:n.507C>T
ENST00000579546.1:c.228C>T
ENST00000579894.5:n.102C>T
ENST00000583074.5:n.110C>T
ENST00000583850.5:n.166C>T
ENST00000583858.5:c.420C>T
ENST00000585203.6:n.582C>T
NM_000018.3:c.1391C>T	NP_000009.1:p.Thr464Ile
NM_001033859.2:c.1325C>T	NP_001029031.1:p.Thr442Ile
NM_001270447.1:c.1460C>T	NP_001257376.1:p.Thr487Ile
NM_001270448.1:c.1163C>T	NP_001257377.1:p.Thr388Ile
XM_006721516.2:c.1391C>T	XP_006721579.2:p.Thr464Ile
XM_011523829.1:c.1391C>T	XP_011522131.1:p.Thr464Ile
XM_011523830.1:c.1391C>T	XP_011522132.1:p.Thr464Ile
XR_934021.1:n.1498C>T
XR_934022.1:n.1498C>T
XR_934023.1:n.1498C>T
XM_006721516.3:c.1391C>T	XP_006721579.2:p.Thr464Ile
XM_011523829.2:c.1391C>T	XP_011522131.1:p.Thr464Ile
XM_011523830.2:c.1391C>T	XP_011522132.1:p.Thr464Ile
XM_024450741.1:c.1391C>T	XP_024306509.1:p.Thr464Ile
XR_934021.2:n.1450C>T
XR_934022.2:n.1450C>T
XR_934023.2:n.1450C>T
NM_000018.4:c.1391C>T MANE Select	NP_000009.1:p.Thr464Ile
NM_001033859.3:c.1325C>T	NP_001029031.1:p.Thr442Ile
NM_001270447.2:c.1460C>T	NP_001257376.1:p.Thr487Ile
NM_001270448.2:c.1163C>T	NP_001257377.1:p.Thr388Ile