Canonical Allele Identifier: CA8337706

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1096704
• ClinVar RCV Id: RCV001418051
• dbSNP Id: rs780716056
• ExAC: 17:7124386 G / A
• gnomAD v2: 17-7124386-G-A
• gnomAD v4: 17-7221067-G-A
• MyVariant Identifiers: chr17:g.7124386G>A (hg19) ; chr17:g.7221067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221067G>A , CM000679.2:g.7221067G>A	GRCh38
NC_000017.10:g.7124386G>A , CM000679.1:g.7124386G>A	GRCh37
NC_000017.9:g.7065110G>A	NCBI36
NG_007975.1:g.6234G>A
NG_008391.2:g.3984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+9G>A MANE Select	ENSP00000349297.5:n.477+9G>A
ENST00000322910.9:c.*432+9G>A	ENSP00000325395.5:n.*432+9G>A
ENST00000350303.9:c.411+9G>A	ENSP00000344152.5:n.411+9G>A
ENST00000356839.9:c.477+9G>A	ENSP00000349297.5:n.477+9G>A
ENST00000543245.6:c.546+9G>A	ENSP00000438689.2:n.546+9G>A
ENST00000577191.5:n.554+9G>A
ENST00000577433.5:n.685+9G>A
ENST00000577857.5:n.293+237G>A
ENST00000579286.5:n.658+9G>A
ENST00000579886.2:c.315+9G>A	ENSP00000463246.1:n.315+9G>A
ENST00000580365.1:n.208+9G>A
ENST00000581378.5:c.176+9G>A
ENST00000581562.5:n.524+9G>A
ENST00000582056.5:n.669G>A
ENST00000582166.1:n.458+9G>A
ENST00000583312.5:c.477+9G>A	ENSP00000467920.1:n.477+9G>A
NM_000018.3:c.477+9G>A	NP_000009.1:n.477+9G>A
NM_001033859.2:c.411+9G>A	NP_001029031.1:n.411+9G>A
NM_001270447.1:c.546+9G>A	NP_001257376.1:n.546+9G>A
NM_001270448.1:c.249+9G>A	NP_001257377.1:n.249+9G>A
XM_006721516.2:c.477+9G>A	XP_006721579.2:n.477+9G>A
XM_011523829.1:c.477+9G>A	XP_011522131.1:n.477+9G>A
XM_011523830.1:c.477+9G>A	XP_011522132.1:n.477+9G>A
XR_934021.1:n.584+9G>A
XR_934022.1:n.584+9G>A
XR_934023.1:n.584+9G>A
XM_006721516.3:c.477+9G>A	XP_006721579.2:n.477+9G>A
XM_011523829.2:c.477+9G>A	XP_011522131.1:n.477+9G>A
XM_011523830.2:c.477+9G>A	XP_011522132.1:n.477+9G>A
XM_024450741.1:c.477+9G>A	XP_024306509.1:n.477+9G>A
XR_934021.2:n.536+9G>A
XR_934022.2:n.536+9G>A
XR_934023.2:n.536+9G>A
NM_000018.4:c.477+9G>A MANE Select	NP_000009.1:n.477+9G>A
NM_001033859.3:c.411+9G>A	NP_001029031.1:n.411+9G>A
NM_001270447.2:c.546+9G>A	NP_001257376.1:n.546+9G>A
NM_001270448.2:c.249+9G>A	NP_001257377.1:n.249+9G>A