Canonical Allele Identifier: CA397724766

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127142G>T (hg19) ; chr17:g.7223823G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223823G>T , CM000679.2:g.7223823G>T	GRCh38
NC_000017.10:g.7127142G>T , CM000679.1:g.7127142G>T	GRCh37
NC_000017.9:g.7067866G>T	NCBI36
NG_007975.1:g.8990G>T
NG_008391.2:g.1228C>A
NG_033038.1:g.15722C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1280G>T MANE Select	ENSP00000349297.5:p.Trp427Leu
ENST00000322910.9:c.*1235G>T	ENSP00000325395.5:n.*1235G>T
ENST00000350303.9:c.1214G>T	ENSP00000344152.5:p.Trp405Leu
ENST00000356839.9:c.1280G>T	ENSP00000349297.5:p.Trp427Leu
ENST00000542255.6:c.138G>T
ENST00000543245.6:c.1349G>T	ENSP00000438689.2:p.Trp450Leu
ENST00000578579.2:n.451G>T
ENST00000578711.1:n.319G>T
ENST00000578824.5:n.696G>T
ENST00000579425.5:n.304G>T
ENST00000579546.1:c.117G>T
ENST00000583850.5:n.55G>T
ENST00000583858.5:c.309G>T
ENST00000585203.6:n.488G>T
NM_000018.3:c.1280G>T	NP_000009.1:p.Trp427Leu
NM_001033859.2:c.1214G>T	NP_001029031.1:p.Trp405Leu
NM_001270447.1:c.1349G>T	NP_001257376.1:p.Trp450Leu
NM_001270448.1:c.1052G>T	NP_001257377.1:p.Trp351Leu
XM_006721516.2:c.1280G>T	XP_006721579.2:p.Trp427Leu
XM_011523829.1:c.1280G>T	XP_011522131.1:p.Trp427Leu
XM_011523830.1:c.1280G>T	XP_011522132.1:p.Trp427Leu
XR_934021.1:n.1387G>T
XR_934022.1:n.1387G>T
XR_934023.1:n.1387G>T
XM_006721516.3:c.1280G>T	XP_006721579.2:p.Trp427Leu
XM_011523829.2:c.1280G>T	XP_011522131.1:p.Trp427Leu
XM_011523830.2:c.1280G>T	XP_011522132.1:p.Trp427Leu
XM_024450741.1:c.1280G>T	XP_024306509.1:p.Trp427Leu
XR_934021.2:n.1339G>T
XR_934022.2:n.1339G>T
XR_934023.2:n.1339G>T
NM_000018.4:c.1280G>T MANE Select	NP_000009.1:p.Trp427Leu
NM_001033859.3:c.1214G>T	NP_001029031.1:p.Trp405Leu
NM_001270447.2:c.1349G>T	NP_001257376.1:p.Trp450Leu
NM_001270448.2:c.1052G>T	NP_001257377.1:p.Trp351Leu