Canonical Allele Identifier: CA397723903

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2015643
• ClinVar RCV Id: RCV002839557
• MyVariant Identifiers: chr17:g.7125994C>T (hg19) ; chr17:g.7222675C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222675C>T , CM000679.2:g.7222675C>T	GRCh38
NC_000017.10:g.7125994C>T , CM000679.1:g.7125994C>T	GRCh37
NC_000017.9:g.7066718C>T	NCBI36
NG_007975.1:g.7842C>T
NG_008391.2:g.2376G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.887C>T MANE Select	ENSP00000349297.5:p.Pro296Leu
ENST00000322910.9:c.*842C>T	ENSP00000325395.5:n.*842C>T
ENST00000350303.9:c.821C>T	ENSP00000344152.5:p.Pro274Leu
ENST00000356839.9:c.887C>T	ENSP00000349297.5:p.Pro296Leu
ENST00000543245.6:c.956C>T	ENSP00000438689.2:p.Pro319Leu
ENST00000578824.5:n.36C>T
ENST00000581378.5:c.605C>T
ENST00000582379.1:n.271C>T
NM_000018.3:c.887C>T	NP_000009.1:p.Pro296Leu
NM_001033859.2:c.821C>T	NP_001029031.1:p.Pro274Leu
NM_001270447.1:c.956C>T	NP_001257376.1:p.Pro319Leu
NM_001270448.1:c.659C>T	NP_001257377.1:p.Pro220Leu
XM_006721516.2:c.887C>T	XP_006721579.2:p.Pro296Leu
XM_011523829.1:c.887C>T	XP_011522131.1:p.Pro296Leu
XM_011523830.1:c.887C>T	XP_011522132.1:p.Pro296Leu
XR_934021.1:n.994C>T
XR_934022.1:n.994C>T
XR_934023.1:n.994C>T
XM_006721516.3:c.887C>T	XP_006721579.2:p.Pro296Leu
XM_011523829.2:c.887C>T	XP_011522131.1:p.Pro296Leu
XM_011523830.2:c.887C>T	XP_011522132.1:p.Pro296Leu
XM_024450741.1:c.887C>T	XP_024306509.1:p.Pro296Leu
XR_934021.2:n.946C>T
XR_934022.2:n.946C>T
XR_934023.2:n.946C>T
NM_000018.4:c.887C>T MANE Select	NP_000009.1:p.Pro296Leu
NM_001033859.3:c.821C>T	NP_001029031.1:p.Pro274Leu
NM_001270447.2:c.956C>T	NP_001257376.1:p.Pro319Leu
NM_001270448.2:c.659C>T	NP_001257377.1:p.Pro220Leu