Canonical Allele Identifier: CA287433261

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs1001027299
• gnomAD v3: 17-7219801-G-A
• gnomAD v4: 17-7219801-G-A
• MyVariant Identifiers: chr17:g.7123120G>A (hg19) ; chr17:g.7219801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219801G>A , CM000679.2:g.7219801G>A	GRCh38
NC_000017.10:g.7123120G>A , CM000679.1:g.7123120G>A	GRCh37
NC_000017.9:g.7063844G>A	NCBI36
NG_007975.1:g.4968G>A
NG_008391.2:g.5250C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-952C>T (DLG4)	ENSP00000382428.3:n.-952C>T
ENST00000648172.8:c.-952C>T (DLG4)	ENSP00000497806.3:n.-952C>T
ENST00000543245.6:c.132-321G>A (ACADVL)	ENSP00000438689.2:n.132-321G>A
NM_001270447.1:c.132-321G>A (ACADVL)	NP_001257376.1:n.132-321G>A
NM_001365.3:c.-952C>T (DLG4)	NP_001356.1:n.-952C>T
XM_005256489.2:c.-952C>T (DLG4)	XP_005256546.1:n.-952C>T
XM_011523698.1:c.-952C>T (DLG4)	XP_011522000.1:n.-952C>T
XM_011523699.1:c.-222C>T (DLG4)	XP_011522001.1:n.-222C>T
XR_243545.2:n.48C>T (DLG4)
XR_934005.1:n.48C>T (DLG4)
NM_001321074.1:c.-952C>T (DLG4)	NP_001308003.1:n.-952C>T
NM_001365.4:c.-952C>T (DLG4)	NP_001356.1:n.-952C>T
NR_135527.1:n.250C>T (DLG4)
XM_011523699.2:c.-222C>T (DLG4)	XP_011522001.1:n.-222C>T
XR_934005.2:n.42C>T (DLG4)
NM_001270447.2:c.132-321G>A (ACADVL)	NP_001257376.1:n.132-321G>A