Canonical Allele Identifier: CA397722687

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1996017
• ClinVar RCV Id: RCV002801738
• gnomAD v4: 17-7220918-C-T
• MyVariant Identifiers: chr17:g.7124237C>T (hg19) ; chr17:g.7220918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220918C>T , CM000679.2:g.7220918C>T	GRCh38
NC_000017.10:g.7124237C>T , CM000679.1:g.7124237C>T	GRCh37
NC_000017.9:g.7064961C>T	NCBI36
NG_007975.1:g.6085C>T
NG_008391.2:g.4133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.343-6C>T MANE Select	ENSP00000349297.5:n.343-6C>T
ENST00000322910.9:c.*298-6C>T	ENSP00000325395.5:n.*298-6C>T
ENST00000350303.9:c.277-6C>T	ENSP00000344152.5:n.277-6C>T
ENST00000356839.9:c.343-6C>T	ENSP00000349297.5:n.343-6C>T
ENST00000543245.6:c.412-6C>T	ENSP00000438689.2:n.412-6C>T
ENST00000577191.5:n.420-6C>T
ENST00000577433.5:n.551-6C>T
ENST00000577857.5:n.293+88C>T
ENST00000579286.5:n.524-6C>T
ENST00000579886.2:c.202-27C>T	ENSP00000463246.1:n.202-27C>T
ENST00000580365.1:n.74-6C>T
ENST00000581378.5:c.42-6C>T
ENST00000581562.5:n.390-6C>T
ENST00000582056.5:n.520C>T
ENST00000582166.1:n.318C>T
ENST00000582356.5:n.629C>T
ENST00000583312.5:c.343-6C>T	ENSP00000467920.1:n.343-6C>T
ENST00000584103.5:c.370C>T	ENSP00000465353.1:p.Pro124Ser
NM_000018.3:c.343-6C>T	NP_000009.1:n.343-6C>T
NM_001033859.2:c.277-6C>T	NP_001029031.1:n.277-6C>T
NM_001270447.1:c.412-6C>T	NP_001257376.1:n.412-6C>T
NM_001270448.1:c.115-6C>T	NP_001257377.1:n.115-6C>T
XM_006721516.2:c.343-6C>T	XP_006721579.2:n.343-6C>T
XM_011523829.1:c.343-6C>T	XP_011522131.1:n.343-6C>T
XM_011523830.1:c.343-6C>T	XP_011522132.1:n.343-6C>T
XR_934021.1:n.450-6C>T
XR_934022.1:n.450-6C>T
XR_934023.1:n.450-6C>T
XM_006721516.3:c.343-6C>T	XP_006721579.2:n.343-6C>T
XM_011523829.2:c.343-6C>T	XP_011522131.1:n.343-6C>T
XM_011523830.2:c.343-6C>T	XP_011522132.1:n.343-6C>T
XM_024450741.1:c.343-6C>T	XP_024306509.1:n.343-6C>T
XR_934021.2:n.402-6C>T
XR_934022.2:n.402-6C>T
XR_934023.2:n.402-6C>T
NM_000018.4:c.343-6C>T MANE Select	NP_000009.1:n.343-6C>T
NM_001033859.3:c.277-6C>T	NP_001029031.1:n.277-6C>T
NM_001270447.2:c.412-6C>T	NP_001257376.1:n.412-6C>T
NM_001270448.2:c.115-6C>T	NP_001257377.1:n.115-6C>T