Canonical Allele Identifier: CA397722012

Gene: ACADVL DLG4

Linked Data

• ClinVar Variation Id: 2093923
• ClinVar RCV Id: RCV002996927
• gnomAD v4: 17-7220047-G-T
• MyVariant Identifiers: chr17:g.7123366G>T (hg19) ; chr17:g.7220047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220047G>T , CM000679.2:g.7220047G>T	GRCh38
NC_000017.10:g.7123366G>T , CM000679.1:g.7123366G>T	GRCh37
NC_000017.9:g.7064090G>T	NCBI36
NG_007975.1:g.5214G>T
NG_008391.2:g.5004C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.62+1G>T (ACADVL) MANE Select	ENSP00000349297.5:n.62+1G>T
ENST00000322910.9:c.63G>T (ACADVL)	ENSP00000325395.5:p.Arg21Ser
ENST00000350303.9:c.62+1G>T (ACADVL)	ENSP00000344152.5:n.62+1G>T
ENST00000356839.9:c.62+1G>T (ACADVL)	ENSP00000349297.5:n.62+1G>T
ENST00000543245.6:c.132-75G>T (ACADVL)	ENSP00000438689.2:n.132-75G>T
ENST00000577191.5:n.139+1G>T (ACADVL)
ENST00000577857.5:n.152+1G>T (ACADVL)
ENST00000578269.5:n.169+1G>T (ACADVL)
ENST00000578421.1:n.122G>T (ACADVL)
ENST00000579286.5:n.169+1G>T (ACADVL)
ENST00000579886.2:c.62+1G>T (ACADVL)	ENSP00000463246.1:n.62+1G>T
ENST00000580263.5:n.152+1G>T (ACADVL)
ENST00000581562.5:n.109+1G>T (ACADVL)
ENST00000582056.5:n.152+1G>T (ACADVL)
ENST00000582356.5:n.187+1G>T (ACADVL)
ENST00000583312.5:c.62+1G>T (ACADVL)	ENSP00000467920.1:n.62+1G>T
ENST00000584103.5:c.62+1G>T (ACADVL)	ENSP00000465353.1:n.62+1G>T
NM_000018.3:c.62+1G>T (ACADVL)	NP_000009.1:n.62+1G>T
NM_001033859.2:c.62+1G>T (ACADVL)	NP_001029031.1:n.62+1G>T
NM_001270447.1:c.132-75G>T (ACADVL)	NP_001257376.1:n.132-75G>T
NM_001270448.1:c.-241G>T (ACADVL)	NP_001257377.1:n.-241G>T
NM_001365.3:c.-1198C>A (DLG4)	NP_001356.1:n.-1198C>A
XM_006721516.2:c.62+1G>T (ACADVL)	XP_006721579.2:n.62+1G>T
XM_011523829.1:c.62+1G>T (ACADVL)	XP_011522131.1:n.62+1G>T
XM_011523830.1:c.62+1G>T (ACADVL)	XP_011522132.1:n.62+1G>T
XR_934021.1:n.169+1G>T (ACADVL)
XR_934022.1:n.169+1G>T (ACADVL)
XR_934023.1:n.169+1G>T (ACADVL)
NM_001321074.1:c.-1198C>A (DLG4)	NP_001308003.1:n.-1198C>A
NM_001365.4:c.-1198C>A (DLG4)	NP_001356.1:n.-1198C>A
NR_135527.1:n.4C>A (DLG4)
XM_006721516.3:c.62+1G>T (ACADVL)	XP_006721579.2:n.62+1G>T
XM_011523829.2:c.62+1G>T (ACADVL)	XP_011522131.1:n.62+1G>T
XM_011523830.2:c.62+1G>T (ACADVL)	XP_011522132.1:n.62+1G>T
XM_024450741.1:c.62+1G>T (ACADVL)	XP_024306509.1:n.62+1G>T
XR_934021.2:n.121+1G>T (ACADVL)
XR_934022.2:n.121+1G>T (ACADVL)
XR_934023.2:n.121+1G>T (ACADVL)
NM_000018.4:c.62+1G>T (ACADVL) MANE Select	NP_000009.1:n.62+1G>T
NM_001033859.3:c.62+1G>T (ACADVL)	NP_001029031.1:n.62+1G>T
NM_001270447.2:c.132-75G>T (ACADVL)	NP_001257376.1:n.132-75G>T
NM_001270448.2:c.-241G>T (ACADVL)	NP_001257377.1:n.-241G>T