Canonical Allele Identifier: CA774739668

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs1381804507
• gnomAD v4: 17-7219867-G-T
• MyVariant Identifiers: chr17:g.7123186G>T (hg19) ; chr17:g.7219867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219867G>T , CM000679.2:g.7219867G>T	GRCh38
NC_000017.10:g.7123186G>T , CM000679.1:g.7123186G>T	GRCh37
NC_000017.9:g.7063910G>T	NCBI36
NG_007975.1:g.5034G>T
NG_008391.2:g.5184C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-118G>T (ACADVL)	ENSP00000325395.5:n.-118G>T
ENST00000350303.9:c.-118G>T (ACADVL)	ENSP00000344152.5:n.-118G>T
ENST00000356839.9:c.-118G>T (ACADVL)	ENSP00000349297.5:n.-118G>T
ENST00000543245.6:c.132-255G>T (ACADVL)	ENSP00000438689.2:n.132-255G>T
ENST00000582356.5:n.8G>T (ACADVL)
ENST00000583312.5:c.-118G>T (ACADVL)	ENSP00000467920.1:n.-118G>T
NM_000018.3:c.-118G>T (ACADVL)	NP_000009.1:n.-118G>T
NM_001033859.2:c.-118G>T (ACADVL)	NP_001029031.1:n.-118G>T
NM_001270447.1:c.132-255G>T (ACADVL)	NP_001257376.1:n.132-255G>T
NM_001270448.1:c.-421G>T (ACADVL)	NP_001257377.1:n.-421G>T
NM_001365.3:c.-1018C>A (DLG4)	NP_001356.1:n.-1018C>A
NM_001321074.1:c.-1018C>A (DLG4)	NP_001308003.1:n.-1018C>A
NM_001365.4:c.-1018C>A (DLG4)	NP_001356.1:n.-1018C>A
NR_135527.1:n.184C>A (DLG4)
NM_001270447.2:c.132-255G>T (ACADVL)	NP_001257376.1:n.132-255G>T