Canonical Allele Identifier: CA8337840

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 474903
• ClinVar RCV Id: RCV000550616 ; RCV000603826 ; RCV003311848 ; RCV003935524
• dbSNP Id: rs374911841
• ExAC: 17:7125469 C / T
• gnomAD v2: 17-7125469-C-T
• gnomAD v3: 17-7222150-C-T
• gnomAD v4: 17-7222150-C-T
• MyVariant Identifiers: chr17:g.7125469C>T (hg19) ; chr17:g.7222150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222150C>T , CM000679.2:g.7222150C>T	GRCh38
NC_000017.10:g.7125469C>T , CM000679.1:g.7125469C>T	GRCh37
NC_000017.9:g.7066193C>T	NCBI36
NG_007975.1:g.7317C>T
NG_008391.2:g.2901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.753-27C>T MANE Select	ENSP00000349297.5:n.753-27C>T
ENST00000322910.9:c.*708-27C>T	ENSP00000325395.5:n.*708-27C>T
ENST00000350303.9:c.687-27C>T	ENSP00000344152.5:n.687-27C>T
ENST00000356839.9:c.753-27C>T	ENSP00000349297.5:n.753-27C>T
ENST00000543245.6:c.822-27C>T	ENSP00000438689.2:n.822-27C>T
ENST00000577191.5:n.898C>T
ENST00000581378.5:c.471-27C>T
ENST00000582379.1:n.137-27C>T
NM_000018.3:c.753-27C>T	NP_000009.1:n.753-27C>T
NM_001033859.2:c.687-27C>T	NP_001029031.1:n.687-27C>T
NM_001270447.1:c.822-27C>T	NP_001257376.1:n.822-27C>T
NM_001270448.1:c.525-27C>T	NP_001257377.1:n.525-27C>T
XM_006721516.2:c.753-27C>T	XP_006721579.2:n.753-27C>T
XM_011523829.1:c.753-27C>T	XP_011522131.1:n.753-27C>T
XM_011523830.1:c.753-27C>T	XP_011522132.1:n.753-27C>T
XR_934021.1:n.860-27C>T
XR_934022.1:n.860-27C>T
XR_934023.1:n.860-27C>T
XM_006721516.3:c.753-27C>T	XP_006721579.2:n.753-27C>T
XM_011523829.2:c.753-27C>T	XP_011522131.1:n.753-27C>T
XM_011523830.2:c.753-27C>T	XP_011522132.1:n.753-27C>T
XM_024450741.1:c.753-27C>T	XP_024306509.1:n.753-27C>T
XR_934021.2:n.812-27C>T
XR_934022.2:n.812-27C>T
XR_934023.2:n.812-27C>T
NM_000018.4:c.753-27C>T MANE Select	NP_000009.1:n.753-27C>T
NM_001033859.3:c.687-27C>T	NP_001029031.1:n.687-27C>T
NM_001270447.2:c.822-27C>T	NP_001257376.1:n.822-27C>T
NM_001270448.2:c.525-27C>T	NP_001257377.1:n.525-27C>T