Canonical Allele Identifier: CA8337902

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932829
• ClinVar RCV Id: RCV001200782
• dbSNP Id: rs771247610
• ExAC: 17:7126003 A / T
• gnomAD v2: 17-7126003-A-T
• gnomAD v3: 17-7222684-A-T
• gnomAD v4: 17-7222684-A-T
• MyVariant Identifiers: chr17:g.7126003A>T (hg19) ; chr17:g.7222684A>T (hg38)
• ERepo: CA8337902/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222684A>T , CM000679.2:g.7222684A>T	GRCh38
NC_000017.10:g.7126003A>T , CM000679.1:g.7126003A>T	GRCh37
NC_000017.9:g.7066727A>T	NCBI36
NG_007975.1:g.7851A>T
NG_008391.2:g.2367T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.896A>T MANE Select	ENSP00000349297.5:p.Lys299Met
ENST00000322910.9:c.*851A>T	ENSP00000325395.5:n.*851A>T
ENST00000350303.9:c.830A>T	ENSP00000344152.5:p.Lys277Met
ENST00000356839.9:c.896A>T	ENSP00000349297.5:p.Lys299Met
ENST00000543245.6:c.965A>T	ENSP00000438689.2:p.Lys322Met
ENST00000578824.5:n.45A>T
ENST00000581378.5:c.614A>T
ENST00000582379.1:n.280A>T
NM_000018.3:c.896A>T	NP_000009.1:p.Lys299Met
NM_001033859.2:c.830A>T	NP_001029031.1:p.Lys277Met
NM_001270447.1:c.965A>T	NP_001257376.1:p.Lys322Met
NM_001270448.1:c.668A>T	NP_001257377.1:p.Lys223Met
XM_006721516.2:c.896A>T	XP_006721579.2:p.Lys299Met
XM_011523829.1:c.896A>T	XP_011522131.1:p.Lys299Met
XM_011523830.1:c.896A>T	XP_011522132.1:p.Lys299Met
XR_934021.1:n.1003A>T
XR_934022.1:n.1003A>T
XR_934023.1:n.1003A>T
XM_006721516.3:c.896A>T	XP_006721579.2:p.Lys299Met
XM_011523829.2:c.896A>T	XP_011522131.1:p.Lys299Met
XM_011523830.2:c.896A>T	XP_011522132.1:p.Lys299Met
XM_024450741.1:c.896A>T	XP_024306509.1:p.Lys299Met
XR_934021.2:n.955A>T
XR_934022.2:n.955A>T
XR_934023.2:n.955A>T
NM_000018.4:c.896A>T MANE Select	NP_000009.1:p.Lys299Met
NM_001033859.3:c.830A>T	NP_001029031.1:p.Lys277Met
NM_001270447.2:c.965A>T	NP_001257376.1:p.Lys322Met
NM_001270448.2:c.668A>T	NP_001257377.1:p.Lys223Met