Canonical Allele Identifier: CA397724941

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127308C>A (hg19) ; chr17:g.7223989C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223989C>A , CM000679.2:g.7223989C>A	GRCh38
NC_000017.10:g.7127308C>A , CM000679.1:g.7127308C>A	GRCh37
NC_000017.9:g.7068032C>A	NCBI36
NG_007975.1:g.9156C>A
NG_008391.2:g.1062G>T
NG_033038.1:g.15556G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1354C>A MANE Select	ENSP00000349297.5:p.Leu452Ile
ENST00000322910.9:c.*1309C>A	ENSP00000325395.5:n.*1309C>A
ENST00000350303.9:c.1288C>A	ENSP00000344152.5:p.Leu430Ile
ENST00000356839.9:c.1354C>A	ENSP00000349297.5:p.Leu452Ile
ENST00000542255.6:c.212C>A
ENST00000543245.6:c.1423C>A	ENSP00000438689.2:p.Leu475Ile
ENST00000578711.1:n.485C>A
ENST00000579425.5:n.470C>A
ENST00000579546.1:c.191C>A
ENST00000579894.5:n.65C>A
ENST00000583074.5:n.73C>A
ENST00000583850.5:n.129C>A
ENST00000583858.5:c.383C>A
ENST00000585203.6:n.545C>A
NM_000018.3:c.1354C>A	NP_000009.1:p.Leu452Ile
NM_001033859.2:c.1288C>A	NP_001029031.1:p.Leu430Ile
NM_001270447.1:c.1423C>A	NP_001257376.1:p.Leu475Ile
NM_001270448.1:c.1126C>A	NP_001257377.1:p.Leu376Ile
XM_006721516.2:c.1354C>A	XP_006721579.2:p.Leu452Ile
XM_011523829.1:c.1354C>A	XP_011522131.1:p.Leu452Ile
XM_011523830.1:c.1354C>A	XP_011522132.1:p.Leu452Ile
XR_934021.1:n.1461C>A
XR_934022.1:n.1461C>A
XR_934023.1:n.1461C>A
XM_006721516.3:c.1354C>A	XP_006721579.2:p.Leu452Ile
XM_011523829.2:c.1354C>A	XP_011522131.1:p.Leu452Ile
XM_011523830.2:c.1354C>A	XP_011522132.1:p.Leu452Ile
XM_024450741.1:c.1354C>A	XP_024306509.1:p.Leu452Ile
XR_934021.2:n.1413C>A
XR_934022.2:n.1413C>A
XR_934023.2:n.1413C>A
NM_000018.4:c.1354C>A MANE Select	NP_000009.1:p.Leu452Ile
NM_001033859.3:c.1288C>A	NP_001029031.1:p.Leu430Ile
NM_001270447.2:c.1423C>A	NP_001257376.1:p.Leu475Ile
NM_001270448.2:c.1126C>A	NP_001257377.1:p.Leu376Ile