Canonical Allele Identifier: CA624693515

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs1415718969
• gnomAD v2: 17-7123155-C-T
• gnomAD v4: 17-7219836-C-T
• MyVariant Identifiers: chr17:g.7123155C>T (hg19) ; chr17:g.7219836C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219836C>T , CM000679.2:g.7219836C>T	GRCh38
NC_000017.10:g.7123155C>T , CM000679.1:g.7123155C>T	GRCh37
NC_000017.9:g.7063879C>T	NCBI36
NG_007975.1:g.5003C>T
NG_008391.2:g.5215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-987G>A (DLG4)	ENSP00000382428.3:n.-987G>A
ENST00000648172.8:c.-987G>A (DLG4)	ENSP00000497806.3:n.-987G>A
ENST00000356839.9:c.-149C>T (ACADVL)	ENSP00000349297.5:n.-149C>T
ENST00000543245.6:c.132-286C>T (ACADVL)	ENSP00000438689.2:n.132-286C>T
NM_000018.3:c.-149C>T (ACADVL)	NP_000009.1:n.-149C>T
NM_001033859.2:c.-149C>T (ACADVL)	NP_001029031.1:n.-149C>T
NM_001270447.1:c.132-286C>T (ACADVL)	NP_001257376.1:n.132-286C>T
NM_001270448.1:c.-452C>T (ACADVL)	NP_001257377.1:n.-452C>T
NM_001365.3:c.-987G>A (DLG4)	NP_001356.1:n.-987G>A
XM_005256489.2:c.-987G>A (DLG4)	XP_005256546.1:n.-987G>A
XM_011523698.1:c.-987G>A (DLG4)	XP_011522000.1:n.-987G>A
XR_243545.2:n.13G>A (DLG4)
XR_934005.1:n.13G>A (DLG4)
NM_001321074.1:c.-987G>A (DLG4)	NP_001308003.1:n.-987G>A
NM_001365.4:c.-987G>A (DLG4)	NP_001356.1:n.-987G>A
NR_135527.1:n.215G>A (DLG4)
XR_934005.2:n.7G>A (DLG4)
NM_001270447.2:c.132-286C>T (ACADVL)	NP_001257376.1:n.132-286C>T