Canonical Allele Identifier: CA287433303

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs921164942
• gnomAD v3: 17-7219854-G-A
• gnomAD v4: 17-7219854-G-A
• MyVariant Identifiers: chr17:g.7123173G>A (hg19) ; chr17:g.7219854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219854G>A , CM000679.2:g.7219854G>A	GRCh38
NC_000017.10:g.7123173G>A , CM000679.1:g.7123173G>A	GRCh37
NC_000017.9:g.7063897G>A	NCBI36
NG_007975.1:g.5021G>A
NG_008391.2:g.5197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-131G>A (ACADVL)	ENSP00000325395.5:n.-131G>A
ENST00000356839.9:c.-131G>A (ACADVL)	ENSP00000349297.5:n.-131G>A
ENST00000543245.6:c.132-268G>A (ACADVL)	ENSP00000438689.2:n.132-268G>A
NM_000018.3:c.-131G>A (ACADVL)	NP_000009.1:n.-131G>A
NM_001033859.2:c.-131G>A (ACADVL)	NP_001029031.1:n.-131G>A
NM_001270447.1:c.132-268G>A (ACADVL)	NP_001257376.1:n.132-268G>A
NM_001270448.1:c.-434G>A (ACADVL)	NP_001257377.1:n.-434G>A
NM_001365.3:c.-1005C>T (DLG4)	NP_001356.1:n.-1005C>T
NM_001321074.1:c.-1005C>T (DLG4)	NP_001308003.1:n.-1005C>T
NM_001365.4:c.-1005C>T (DLG4)	NP_001356.1:n.-1005C>T
NR_135527.1:n.197C>T (DLG4)
NM_001270447.2:c.132-268G>A (ACADVL)	NP_001257376.1:n.132-268G>A