Canonical Allele Identifier: CA8337826

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1151776
• ClinVar RCV Id: RCV001492845
• dbSNP Id: rs753057653
• ExAC: 17:7125407 T / C
• gnomAD v2: 17-7125407-T-C
• gnomAD v4: 17-7222088-T-C
• MyVariant Identifiers: chr17:g.7125407T>C (hg19) ; chr17:g.7222088T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222088T>C , CM000679.2:g.7222088T>C	GRCh38
NC_000017.10:g.7125407T>C , CM000679.1:g.7125407T>C	GRCh37
NC_000017.9:g.7066131T>C	NCBI36
NG_007975.1:g.7255T>C
NG_008391.2:g.2963A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.752+7T>C MANE Select	ENSP00000349297.5:n.752+7T>C
ENST00000322910.9:c.*707+7T>C	ENSP00000325395.5:n.*707+7T>C
ENST00000350303.9:c.686+7T>C	ENSP00000344152.5:n.686+7T>C
ENST00000356839.9:c.752+7T>C	ENSP00000349297.5:n.752+7T>C
ENST00000543245.6:c.821+7T>C	ENSP00000438689.2:n.821+7T>C
ENST00000577191.5:n.836T>C
ENST00000580365.1:n.490T>C
ENST00000581378.5:c.470+7T>C
ENST00000582379.1:n.136+7T>C
ENST00000583760.1:n.541T>C
NM_000018.3:c.752+7T>C	NP_000009.1:n.752+7T>C
NM_001033859.2:c.686+7T>C	NP_001029031.1:n.686+7T>C
NM_001270447.1:c.821+7T>C	NP_001257376.1:n.821+7T>C
NM_001270448.1:c.524+7T>C	NP_001257377.1:n.524+7T>C
XM_006721516.2:c.752+7T>C	XP_006721579.2:n.752+7T>C
XM_011523829.1:c.752+7T>C	XP_011522131.1:n.752+7T>C
XM_011523830.1:c.752+7T>C	XP_011522132.1:n.752+7T>C
XR_934021.1:n.859+7T>C
XR_934022.1:n.859+7T>C
XR_934023.1:n.859+7T>C
XM_006721516.3:c.752+7T>C	XP_006721579.2:n.752+7T>C
XM_011523829.2:c.752+7T>C	XP_011522131.1:n.752+7T>C
XM_011523830.2:c.752+7T>C	XP_011522132.1:n.752+7T>C
XM_024450741.1:c.752+7T>C	XP_024306509.1:n.752+7T>C
XR_934021.2:n.811+7T>C
XR_934022.2:n.811+7T>C
XR_934023.2:n.811+7T>C
NM_000018.4:c.752+7T>C MANE Select	NP_000009.1:n.752+7T>C
NM_001033859.3:c.686+7T>C	NP_001029031.1:n.686+7T>C
NM_001270447.2:c.821+7T>C	NP_001257376.1:n.821+7T>C
NM_001270448.2:c.524+7T>C	NP_001257377.1:n.524+7T>C