Canonical Allele Identifier: CA287433349

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs564821395
• gnomAD v2: 17-7123202-A-C
• gnomAD v4: 17-7219883-A-C
• MyVariant Identifiers: chr17:g.7123202A>C (hg19) ; chr17:g.7219883A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219883A>C , CM000679.2:g.7219883A>C	GRCh38
NC_000017.10:g.7123202A>C , CM000679.1:g.7123202A>C	GRCh37
NC_000017.9:g.7063926A>C	NCBI36
NG_007975.1:g.5050A>C
NG_008391.2:g.5168T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-102A>C (ACADVL)	ENSP00000325395.5:n.-102A>C
ENST00000350303.9:c.-102A>C (ACADVL)	ENSP00000344152.5:n.-102A>C
ENST00000356839.9:c.-102A>C (ACADVL)	ENSP00000349297.5:n.-102A>C
ENST00000543245.6:c.132-239A>C (ACADVL)	ENSP00000438689.2:n.132-239A>C
ENST00000578269.5:n.6A>C (ACADVL)
ENST00000579286.5:n.6A>C (ACADVL)
ENST00000582356.5:n.24A>C (ACADVL)
ENST00000583312.5:c.-102A>C (ACADVL)	ENSP00000467920.1:n.-102A>C
NM_000018.3:c.-102A>C (ACADVL)	NP_000009.1:n.-102A>C
NM_001033859.2:c.-102A>C (ACADVL)	NP_001029031.1:n.-102A>C
NM_001270447.1:c.132-239A>C (ACADVL)	NP_001257376.1:n.132-239A>C
NM_001270448.1:c.-405A>C (ACADVL)	NP_001257377.1:n.-405A>C
NM_001365.3:c.-1034T>G (DLG4)	NP_001356.1:n.-1034T>G
XM_006721516.2:c.-102A>C (ACADVL)	XP_006721579.2:n.-102A>C
XM_011523829.1:c.-102A>C (ACADVL)	XP_011522131.1:n.-102A>C
XM_011523830.1:c.-102A>C (ACADVL)	XP_011522132.1:n.-102A>C
XR_934021.1:n.6A>C (ACADVL)
XR_934022.1:n.6A>C (ACADVL)
XR_934023.1:n.6A>C (ACADVL)
NM_001321074.1:c.-1034T>G (DLG4)	NP_001308003.1:n.-1034T>G
NM_001365.4:c.-1034T>G (DLG4)	NP_001356.1:n.-1034T>G
NR_135527.1:n.168T>G (DLG4)
NM_001270447.2:c.132-239A>C (ACADVL)	NP_001257376.1:n.132-239A>C