Canonical Allele Identifier: CA624861304

Gene: ACADVL

Linked Data

• dbSNP Id: rs1280029444
• gnomAD v2: 17-7126920-C-T
• gnomAD v4: 17-7223601-C-T
• MyVariant Identifiers: chr17:g.7126920C>T (hg19) ; chr17:g.7223601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223601C>T , CM000679.2:g.7223601C>T	GRCh38
NC_000017.10:g.7126920C>T , CM000679.1:g.7126920C>T	GRCh37
NC_000017.9:g.7067644C>T	NCBI36
NG_007975.1:g.8768C>T
NG_008391.2:g.1450G>A
NG_033038.1:g.15944G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1183-43C>T MANE Select	ENSP00000349297.5:n.1183-43C>T
ENST00000322910.9:c.*1138-43C>T	ENSP00000325395.5:n.*1138-43C>T
ENST00000350303.9:c.1117-43C>T	ENSP00000344152.5:n.1117-43C>T
ENST00000356839.9:c.1183-43C>T	ENSP00000349297.5:n.1183-43C>T
ENST00000542255.6:c.41-43C>T
ENST00000543245.6:c.1252-43C>T	ENSP00000438689.2:n.1252-43C>T
ENST00000578579.2:n.311C>T
ENST00000578711.1:n.97C>T
ENST00000578824.5:n.599-43C>T
ENST00000579425.5:n.207-43C>T
ENST00000579546.1:c.20-43C>T
ENST00000583858.5:c.212-43C>T
ENST00000585203.6:n.391-43C>T
NM_000018.3:c.1183-43C>T	NP_000009.1:n.1183-43C>T
NM_001033859.2:c.1117-43C>T	NP_001029031.1:n.1117-43C>T
NM_001270447.1:c.1252-43C>T	NP_001257376.1:n.1252-43C>T
NM_001270448.1:c.955-43C>T	NP_001257377.1:n.955-43C>T
XM_006721516.2:c.1183-43C>T	XP_006721579.2:n.1183-43C>T
XM_011523829.1:c.1183-43C>T	XP_011522131.1:n.1183-43C>T
XM_011523830.1:c.1183-43C>T	XP_011522132.1:n.1183-43C>T
XR_934021.1:n.1290-43C>T
XR_934022.1:n.1290-43C>T
XR_934023.1:n.1290-43C>T
XM_006721516.3:c.1183-43C>T	XP_006721579.2:n.1183-43C>T
XM_011523829.2:c.1183-43C>T	XP_011522131.1:n.1183-43C>T
XM_011523830.2:c.1183-43C>T	XP_011522132.1:n.1183-43C>T
XM_024450741.1:c.1183-43C>T	XP_024306509.1:n.1183-43C>T
XR_934021.2:n.1242-43C>T
XR_934022.2:n.1242-43C>T
XR_934023.2:n.1242-43C>T
NM_000018.4:c.1183-43C>T MANE Select	NP_000009.1:n.1183-43C>T
NM_001033859.3:c.1117-43C>T	NP_001029031.1:n.1117-43C>T
NM_001270447.2:c.1252-43C>T	NP_001257376.1:n.1252-43C>T
NM_001270448.2:c.955-43C>T	NP_001257377.1:n.955-43C>T