Canonical Allele Identifier: CA397724539

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223644-T-A
• MyVariant Identifiers: chr17:g.7126963T>A (hg19) ; chr17:g.7223644T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223644T>A , CM000679.2:g.7223644T>A	GRCh38
NC_000017.10:g.7126963T>A , CM000679.1:g.7126963T>A	GRCh37
NC_000017.9:g.7067687T>A	NCBI36
NG_007975.1:g.8811T>A
NG_008391.2:g.1407A>T
NG_033038.1:g.15901A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1183T>A MANE Select	ENSP00000349297.5:p.Ser395Thr
ENST00000322910.9:c.*1138T>A	ENSP00000325395.5:n.*1138T>A
ENST00000350303.9:c.1117T>A	ENSP00000344152.5:p.Ser373Thr
ENST00000356839.9:c.1183T>A	ENSP00000349297.5:p.Ser395Thr
ENST00000542255.6:c.41T>A
ENST00000543245.6:c.1252T>A	ENSP00000438689.2:p.Ser418Thr
ENST00000578579.2:n.354T>A
ENST00000578711.1:n.140T>A
ENST00000578824.5:n.599T>A
ENST00000579425.5:n.207T>A
ENST00000579546.1:c.20T>A
ENST00000583858.5:c.212T>A
ENST00000585203.6:n.391T>A
NM_000018.3:c.1183T>A	NP_000009.1:p.Ser395Thr
NM_001033859.2:c.1117T>A	NP_001029031.1:p.Ser373Thr
NM_001270447.1:c.1252T>A	NP_001257376.1:p.Ser418Thr
NM_001270448.1:c.955T>A	NP_001257377.1:p.Ser319Thr
XM_006721516.2:c.1183T>A	XP_006721579.2:p.Ser395Thr
XM_011523829.1:c.1183T>A	XP_011522131.1:p.Ser395Thr
XM_011523830.1:c.1183T>A	XP_011522132.1:p.Ser395Thr
XR_934021.1:n.1290T>A
XR_934022.1:n.1290T>A
XR_934023.1:n.1290T>A
XM_006721516.3:c.1183T>A	XP_006721579.2:p.Ser395Thr
XM_011523829.2:c.1183T>A	XP_011522131.1:p.Ser395Thr
XM_011523830.2:c.1183T>A	XP_011522132.1:p.Ser395Thr
XM_024450741.1:c.1183T>A	XP_024306509.1:p.Ser395Thr
XR_934021.2:n.1242T>A
XR_934022.2:n.1242T>A
XR_934023.2:n.1242T>A
NM_000018.4:c.1183T>A MANE Select	NP_000009.1:p.Ser395Thr
NM_001033859.3:c.1117T>A	NP_001029031.1:p.Ser373Thr
NM_001270447.2:c.1252T>A	NP_001257376.1:p.Ser418Thr
NM_001270448.2:c.955T>A	NP_001257377.1:p.Ser319Thr