Canonical Allele Identifier: CA624693511

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs1262480100
• gnomAD v2: 17-7123142-C-T
• gnomAD v4: 17-7219823-C-T
• MyVariant Identifiers: chr17:g.7123142C>T (hg19) ; chr17:g.7219823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219823C>T , CM000679.2:g.7219823C>T	GRCh38
NC_000017.10:g.7123142C>T , CM000679.1:g.7123142C>T	GRCh37
NC_000017.9:g.7063866C>T	NCBI36
NG_007975.1:g.4990C>T
NG_008391.2:g.5228G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-974G>A (DLG4)	ENSP00000382428.3:n.-974G>A
ENST00000648172.8:c.-974G>A (DLG4)	ENSP00000497806.3:n.-974G>A
ENST00000356839.9:c.-162C>T (ACADVL)	ENSP00000349297.5:n.-162C>T
ENST00000543245.6:c.132-299C>T (ACADVL)	ENSP00000438689.2:n.132-299C>T
NM_001270447.1:c.132-299C>T (ACADVL)	NP_001257376.1:n.132-299C>T
NM_001365.3:c.-974G>A (DLG4)	NP_001356.1:n.-974G>A
XM_005256489.2:c.-974G>A (DLG4)	XP_005256546.1:n.-974G>A
XM_011523698.1:c.-974G>A (DLG4)	XP_011522000.1:n.-974G>A
XR_243545.2:n.26G>A (DLG4)
XR_934005.1:n.26G>A (DLG4)
NM_001321074.1:c.-974G>A (DLG4)	NP_001308003.1:n.-974G>A
NM_001365.4:c.-974G>A (DLG4)	NP_001356.1:n.-974G>A
NR_135527.1:n.228G>A (DLG4)
XR_934005.2:n.20G>A (DLG4)
NM_001270447.2:c.132-299C>T (ACADVL)	NP_001257376.1:n.132-299C>T