Canonical Allele Identifier: CA397721964

Gene: ACADVL DLG4

Linked Data

• MyVariant Identifiers: chr17:g.7123341A>C (hg19) ; chr17:g.7220022A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220022A>C , CM000679.2:g.7220022A>C	GRCh38
NC_000017.10:g.7123341A>C , CM000679.1:g.7123341A>C	GRCh37
NC_000017.9:g.7064065A>C	NCBI36
NG_007975.1:g.5189A>C
NG_008391.2:g.5029T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.38A>C (ACADVL) MANE Select	ENSP00000349297.5:p.Gln13Pro
ENST00000322910.9:c.38A>C (ACADVL)	ENSP00000325395.5:p.Gln13Pro
ENST00000350303.9:c.38A>C (ACADVL)	ENSP00000344152.5:p.Gln13Pro
ENST00000356839.9:c.38A>C (ACADVL)	ENSP00000349297.5:p.Gln13Pro
ENST00000543245.6:c.132-100A>C (ACADVL)	ENSP00000438689.2:n.132-100A>C
ENST00000577191.5:n.115A>C (ACADVL)
ENST00000577857.5:n.128A>C (ACADVL)
ENST00000578269.5:n.145A>C (ACADVL)
ENST00000578421.1:n.97A>C (ACADVL)
ENST00000579286.5:n.145A>C (ACADVL)
ENST00000579886.2:c.38A>C (ACADVL)	ENSP00000463246.1:p.Gln13Pro
ENST00000580263.5:n.128A>C (ACADVL)
ENST00000581562.5:n.85A>C (ACADVL)
ENST00000582056.5:n.128A>C (ACADVL)
ENST00000582356.5:n.163A>C (ACADVL)
ENST00000583312.5:c.38A>C (ACADVL)	ENSP00000467920.1:p.Gln13Pro
ENST00000584103.5:c.38A>C (ACADVL)	ENSP00000465353.1:p.Gln13Pro
NM_000018.3:c.38A>C (ACADVL)	NP_000009.1:p.Gln13Pro
NM_001033859.2:c.38A>C (ACADVL)	NP_001029031.1:p.Gln13Pro
NM_001270447.1:c.132-100A>C (ACADVL)	NP_001257376.1:n.132-100A>C
NM_001270448.1:c.-266A>C (ACADVL)	NP_001257377.1:n.-266A>C
NM_001365.3:c.-1173T>G (DLG4)	NP_001356.1:n.-1173T>G
XM_006721516.2:c.38A>C (ACADVL)	XP_006721579.2:p.Gln13Pro
XM_011523829.1:c.38A>C (ACADVL)	XP_011522131.1:p.Gln13Pro
XM_011523830.1:c.38A>C (ACADVL)	XP_011522132.1:p.Gln13Pro
XR_934021.1:n.145A>C (ACADVL)
XR_934022.1:n.145A>C (ACADVL)
XR_934023.1:n.145A>C (ACADVL)
NM_001321074.1:c.-1173T>G (DLG4)	NP_001308003.1:n.-1173T>G
NM_001365.4:c.-1173T>G (DLG4)	NP_001356.1:n.-1173T>G
NR_135527.1:n.29T>G (DLG4)
XM_006721516.3:c.38A>C (ACADVL)	XP_006721579.2:p.Gln13Pro
XM_011523829.2:c.38A>C (ACADVL)	XP_011522131.1:p.Gln13Pro
XM_011523830.2:c.38A>C (ACADVL)	XP_011522132.1:p.Gln13Pro
XM_024450741.1:c.38A>C (ACADVL)	XP_024306509.1:p.Gln13Pro
XR_934021.2:n.97A>C (ACADVL)
XR_934022.2:n.97A>C (ACADVL)
XR_934023.2:n.97A>C (ACADVL)
NM_000018.4:c.38A>C (ACADVL) MANE Select	NP_000009.1:p.Gln13Pro
NM_001033859.3:c.38A>C (ACADVL)	NP_001029031.1:p.Gln13Pro
NM_001270447.2:c.132-100A>C (ACADVL)	NP_001257376.1:n.132-100A>C
NM_001270448.2:c.-266A>C (ACADVL)	NP_001257377.1:n.-266A>C