Canonical Allele Identifier: CA8337933

Gene: ACADVL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222864C>T , CM000679.2:g.7222864C>T	GRCh38
NC_000017.10:g.7126183C>T , CM000679.1:g.7126183C>T	GRCh37
NC_000017.9:g.7066907C>T	NCBI36
NG_007975.1:g.8031C>T
NG_008391.2:g.2187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1076C>T MANE Select	ENSP00000349297.5:p.Ala359Val
ENST00000322910.9:c.*1031C>T	ENSP00000325395.5:n.*1031C>T
ENST00000350303.9:c.1010C>T	ENSP00000344152.5:p.Ala337Val
ENST00000356839.9:c.1076C>T	ENSP00000349297.5:p.Ala359Val
ENST00000543245.6:c.1145C>T	ENSP00000438689.2:p.Ala382Val
ENST00000578824.5:n.225C>T
ENST00000582379.1:n.460C>T
ENST00000583858.5:c.105C>T
ENST00000585203.6:n.17C>T
NM_000018.3:c.1076C>T	NP_000009.1:p.Ala359Val
NM_001033859.2:c.1010C>T	NP_001029031.1:p.Ala337Val
NM_001270447.1:c.1145C>T	NP_001257376.1:p.Ala382Val
NM_001270448.1:c.848C>T	NP_001257377.1:p.Ala283Val
XM_006721516.2:c.1076C>T	XP_006721579.2:p.Ala359Val
XM_011523829.1:c.1076C>T	XP_011522131.1:p.Ala359Val
XM_011523830.1:c.1076C>T	XP_011522132.1:p.Ala359Val
XR_934021.1:n.1183C>T
XR_934022.1:n.1183C>T
XR_934023.1:n.1183C>T
XM_006721516.3:c.1076C>T	XP_006721579.2:p.Ala359Val
XM_011523829.2:c.1076C>T	XP_011522131.1:p.Ala359Val
XM_011523830.2:c.1076C>T	XP_011522132.1:p.Ala359Val
XM_024450741.1:c.1076C>T	XP_024306509.1:p.Ala359Val
XR_934021.2:n.1135C>T
XR_934022.2:n.1135C>T
XR_934023.2:n.1135C>T
NM_000018.4:c.1076C>T MANE Select	NP_000009.1:p.Ala359Val
NM_001033859.3:c.1010C>T	NP_001029031.1:p.Ala337Val
NM_001270447.2:c.1145C>T	NP_001257376.1:p.Ala382Val
NM_001270448.2:c.848C>T	NP_001257377.1:p.Ala283Val