Canonical Allele Identifier: CA397723438

Gene: ACADVL

Linked Data

• dbSNP Id: rs1293209621
• gnomAD v2: 17-7125321-G-A
• gnomAD v4: 17-7222002-G-A
• MyVariant Identifiers: chr17:g.7125321G>A (hg19) ; chr17:g.7222002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222002G>A , CM000679.2:g.7222002G>A	GRCh38
NC_000017.10:g.7125321G>A , CM000679.1:g.7125321G>A	GRCh37
NC_000017.9:g.7066045G>A	NCBI36
NG_007975.1:g.7169G>A
NG_008391.2:g.3049C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.673G>A MANE Select	ENSP00000349297.5:p.Ala225Thr
ENST00000322910.9:c.*628G>A	ENSP00000325395.5:n.*628G>A
ENST00000350303.9:c.607G>A	ENSP00000344152.5:p.Ala203Thr
ENST00000356839.9:c.673G>A	ENSP00000349297.5:p.Ala225Thr
ENST00000543245.6:c.742G>A	ENSP00000438689.2:p.Ala248Thr
ENST00000577191.5:n.750G>A
ENST00000577857.5:n.489G>A
ENST00000579286.5:n.854G>A
ENST00000580365.1:n.404G>A
ENST00000581378.5:c.391G>A
ENST00000582379.1:n.57G>A
ENST00000583760.1:n.455G>A
NM_000018.3:c.673G>A	NP_000009.1:p.Ala225Thr
NM_001033859.2:c.607G>A	NP_001029031.1:p.Ala203Thr
NM_001270447.1:c.742G>A	NP_001257376.1:p.Ala248Thr
NM_001270448.1:c.445G>A	NP_001257377.1:p.Ala149Thr
XM_006721516.2:c.673G>A	XP_006721579.2:p.Ala225Thr
XM_011523829.1:c.673G>A	XP_011522131.1:p.Ala225Thr
XM_011523830.1:c.673G>A	XP_011522132.1:p.Ala225Thr
XR_934021.1:n.780G>A
XR_934022.1:n.780G>A
XR_934023.1:n.780G>A
XM_006721516.3:c.673G>A	XP_006721579.2:p.Ala225Thr
XM_011523829.2:c.673G>A	XP_011522131.1:p.Ala225Thr
XM_011523830.2:c.673G>A	XP_011522132.1:p.Ala225Thr
XM_024450741.1:c.673G>A	XP_024306509.1:p.Ala225Thr
XR_934021.2:n.732G>A
XR_934022.2:n.732G>A
XR_934023.2:n.732G>A
NM_000018.4:c.673G>A MANE Select	NP_000009.1:p.Ala225Thr
NM_001033859.3:c.607G>A	NP_001029031.1:p.Ala203Thr
NM_001270447.2:c.742G>A	NP_001257376.1:p.Ala248Thr
NM_001270448.2:c.445G>A	NP_001257377.1:p.Ala149Thr