Canonical Allele Identifier: CA774739671

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs757178968
• MyVariant Identifiers: chr17:g.7123187T>A (hg19) ; chr17:g.7219868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219868T>A , CM000679.2:g.7219868T>A	GRCh38
NC_000017.10:g.7123187T>A , CM000679.1:g.7123187T>A	GRCh37
NC_000017.9:g.7063911T>A	NCBI36
NG_007975.1:g.5035T>A
NG_008391.2:g.5183A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-117T>A (ACADVL)	ENSP00000325395.5:n.-117T>A
ENST00000350303.9:c.-117T>A (ACADVL)	ENSP00000344152.5:n.-117T>A
ENST00000356839.9:c.-117T>A (ACADVL)	ENSP00000349297.5:n.-117T>A
ENST00000543245.6:c.132-254T>A (ACADVL)	ENSP00000438689.2:n.132-254T>A
ENST00000582356.5:n.9T>A (ACADVL)
ENST00000583312.5:c.-117T>A (ACADVL)	ENSP00000467920.1:n.-117T>A
NM_000018.3:c.-117T>A (ACADVL)	NP_000009.1:n.-117T>A
NM_001033859.2:c.-117T>A (ACADVL)	NP_001029031.1:n.-117T>A
NM_001270447.1:c.132-254T>A (ACADVL)	NP_001257376.1:n.132-254T>A
NM_001270448.1:c.-420T>A (ACADVL)	NP_001257377.1:n.-420T>A
NM_001365.3:c.-1019A>T (DLG4)	NP_001356.1:n.-1019A>T
NM_001321074.1:c.-1019A>T (DLG4)	NP_001308003.1:n.-1019A>T
NM_001365.4:c.-1019A>T (DLG4)	NP_001356.1:n.-1019A>T
NR_135527.1:n.183A>T (DLG4)
NM_001270447.2:c.132-254T>A (ACADVL)	NP_001257376.1:n.132-254T>A