Canonical Allele Identifier: CA8337696

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1555900
• ClinVar RCV Id: RCV002185389
• dbSNP Id: rs767727881
• ExAC: 17:7124314 G / A
• gnomAD v2: 17-7124314-G-A
• gnomAD v4: 17-7220995-G-A
• MyVariant Identifiers: chr17:g.7124314G>A (hg19) ; chr17:g.7220995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220995G>A , CM000679.2:g.7220995G>A	GRCh38
NC_000017.10:g.7124314G>A , CM000679.1:g.7124314G>A	GRCh37
NC_000017.9:g.7065038G>A	NCBI36
NG_007975.1:g.6162G>A
NG_008391.2:g.4056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.414G>A MANE Select	ENSP00000349297.5:p.Glu138=
ENST00000322910.9:c.*369G>A	ENSP00000325395.5:n.*369G>A
ENST00000350303.9:c.348G>A	ENSP00000344152.5:p.Glu116=
ENST00000356839.9:c.414G>A	ENSP00000349297.5:p.Glu138=
ENST00000543245.6:c.483G>A	ENSP00000438689.2:p.Glu161=
ENST00000577191.5:n.491G>A
ENST00000577433.5:n.622G>A
ENST00000577857.5:n.293+165G>A
ENST00000579286.5:n.595G>A
ENST00000579886.2:c.252G>A	ENSP00000463246.1:p.Glu84=
ENST00000580365.1:n.145G>A
ENST00000581378.5:c.113G>A
ENST00000581562.5:n.461G>A
ENST00000582056.5:n.597G>A
ENST00000582166.1:n.395G>A
ENST00000583312.5:c.414G>A	ENSP00000467920.1:p.Glu138=
ENST00000584103.5:c.447G>A	ENSP00000465353.1:p.Glu149=
NM_000018.3:c.414G>A	NP_000009.1:p.Glu138=
NM_001033859.2:c.348G>A	NP_001029031.1:p.Glu116=
NM_001270447.1:c.483G>A	NP_001257376.1:p.Glu161=
NM_001270448.1:c.186G>A	NP_001257377.1:p.Glu62=
XM_006721516.2:c.414G>A	XP_006721579.2:p.Glu138=
XM_011523829.1:c.414G>A	XP_011522131.1:p.Glu138=
XM_011523830.1:c.414G>A	XP_011522132.1:p.Glu138=
XR_934021.1:n.521G>A
XR_934022.1:n.521G>A
XR_934023.1:n.521G>A
XM_006721516.3:c.414G>A	XP_006721579.2:p.Glu138=
XM_011523829.2:c.414G>A	XP_011522131.1:p.Glu138=
XM_011523830.2:c.414G>A	XP_011522132.1:p.Glu138=
XM_024450741.1:c.414G>A	XP_024306509.1:p.Glu138=
XR_934021.2:n.473G>A
XR_934022.2:n.473G>A
XR_934023.2:n.473G>A
NM_000018.4:c.414G>A MANE Select	NP_000009.1:p.Glu138=
NM_001033859.3:c.348G>A	NP_001029031.1:p.Glu116=
NM_001270447.2:c.483G>A	NP_001257376.1:p.Glu161=
NM_001270448.2:c.186G>A	NP_001257377.1:p.Glu62=