Canonical Allele Identifier: CA287433273

Gene: DLG4 ACADVL

Linked Data

• dbSNP Id: rs956772134
• gnomAD v4: 17-7219817-G-A
• MyVariant Identifiers: chr17:g.7123136G>A (hg19) ; chr17:g.7219817G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219817G>A , CM000679.2:g.7219817G>A	GRCh38
NC_000017.10:g.7123136G>A , CM000679.1:g.7123136G>A	GRCh37
NC_000017.9:g.7063860G>A	NCBI36
NG_007975.1:g.4984G>A
NG_008391.2:g.5234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399510.8:c.-968C>T (DLG4)	ENSP00000382428.3:n.-968C>T
ENST00000648172.8:c.-968C>T (DLG4)	ENSP00000497806.3:n.-968C>T
ENST00000356839.9:c.-168G>A (ACADVL)	ENSP00000349297.5:n.-168G>A
ENST00000543245.6:c.132-305G>A (ACADVL)	ENSP00000438689.2:n.132-305G>A
NM_001270447.1:c.132-305G>A (ACADVL)	NP_001257376.1:n.132-305G>A
NM_001365.3:c.-968C>T (DLG4)	NP_001356.1:n.-968C>T
XM_005256489.2:c.-968C>T (DLG4)	XP_005256546.1:n.-968C>T
XM_011523698.1:c.-968C>T (DLG4)	XP_011522000.1:n.-968C>T
XM_011523699.1:c.-238C>T (DLG4)	XP_011522001.1:n.-238C>T
XR_243545.2:n.32C>T (DLG4)
XR_934005.1:n.32C>T (DLG4)
NM_001321074.1:c.-968C>T (DLG4)	NP_001308003.1:n.-968C>T
NM_001365.4:c.-968C>T (DLG4)	NP_001356.1:n.-968C>T
NR_135527.1:n.234C>T (DLG4)
XM_011523699.2:c.-238C>T (DLG4)	XP_011522001.1:n.-238C>T
XR_934005.2:n.26C>T (DLG4)
NM_001270447.2:c.132-305G>A (ACADVL)	NP_001257376.1:n.132-305G>A