Canonical Allele Identifier: CA397723160

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124937C>A (hg19) ; chr17:g.7221618C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221618C>A , CM000679.2:g.7221618C>A	GRCh38
NC_000017.10:g.7124937C>A , CM000679.1:g.7124937C>A	GRCh37
NC_000017.9:g.7065661C>A	NCBI36
NG_007975.1:g.6785C>A
NG_008391.2:g.3433G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.558C>A MANE Select	ENSP00000349297.5:p.Phe186Leu
ENST00000322910.9:c.*513C>A	ENSP00000325395.5:n.*513C>A
ENST00000350303.9:c.492C>A	ENSP00000344152.5:p.Phe164Leu
ENST00000356839.9:c.558C>A	ENSP00000349297.5:p.Phe186Leu
ENST00000543245.6:c.627C>A	ENSP00000438689.2:p.Phe209Leu
ENST00000577191.5:n.635C>A
ENST00000577433.5:n.766C>A
ENST00000577857.5:n.374C>A
ENST00000579286.5:n.739C>A
ENST00000579886.2:c.396C>A	ENSP00000463246.1:p.Phe132Leu
ENST00000580365.1:n.289C>A
ENST00000581378.5:c.276C>A
ENST00000581562.5:n.525-334C>A
ENST00000582166.1:n.539C>A
ENST00000583312.5:c.558C>A	ENSP00000467920.1:p.Phe186Leu
ENST00000583760.1:n.340C>A
NM_000018.3:c.558C>A	NP_000009.1:p.Phe186Leu
NM_001033859.2:c.492C>A	NP_001029031.1:p.Phe164Leu
NM_001270447.1:c.627C>A	NP_001257376.1:p.Phe209Leu
NM_001270448.1:c.330C>A	NP_001257377.1:p.Phe110Leu
XM_006721516.2:c.558C>A	XP_006721579.2:p.Phe186Leu
XM_011523829.1:c.558C>A	XP_011522131.1:p.Phe186Leu
XM_011523830.1:c.558C>A	XP_011522132.1:p.Phe186Leu
XR_934021.1:n.665C>A
XR_934022.1:n.665C>A
XR_934023.1:n.665C>A
XM_006721516.3:c.558C>A	XP_006721579.2:p.Phe186Leu
XM_011523829.2:c.558C>A	XP_011522131.1:p.Phe186Leu
XM_011523830.2:c.558C>A	XP_011522132.1:p.Phe186Leu
XM_024450741.1:c.558C>A	XP_024306509.1:p.Phe186Leu
XR_934021.2:n.617C>A
XR_934022.2:n.617C>A
XR_934023.2:n.617C>A
NM_000018.4:c.558C>A MANE Select	NP_000009.1:p.Phe186Leu
NM_001033859.3:c.492C>A	NP_001029031.1:p.Phe164Leu
NM_001270447.2:c.627C>A	NP_001257376.1:p.Phe209Leu
NM_001270448.2:c.330C>A	NP_001257377.1:p.Phe110Leu