Canonical Allele Identifier: CA397723928

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126006T>A (hg19) ; chr17:g.7222687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222687T>A , CM000679.2:g.7222687T>A	GRCh38
NC_000017.10:g.7126006T>A , CM000679.1:g.7126006T>A	GRCh37
NC_000017.9:g.7066730T>A	NCBI36
NG_007975.1:g.7854T>A
NG_008391.2:g.2364A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.899T>A MANE Select	ENSP00000349297.5:p.Met300Lys
ENST00000322910.9:c.*854T>A	ENSP00000325395.5:n.*854T>A
ENST00000350303.9:c.833T>A	ENSP00000344152.5:p.Met278Lys
ENST00000356839.9:c.899T>A	ENSP00000349297.5:p.Met300Lys
ENST00000543245.6:c.968T>A	ENSP00000438689.2:p.Met323Lys
ENST00000578824.5:n.48T>A
ENST00000581378.5:c.617T>A
ENST00000582379.1:n.283T>A
NM_000018.3:c.899T>A	NP_000009.1:p.Met300Lys
NM_001033859.2:c.833T>A	NP_001029031.1:p.Met278Lys
NM_001270447.1:c.968T>A	NP_001257376.1:p.Met323Lys
NM_001270448.1:c.671T>A	NP_001257377.1:p.Met224Lys
XM_006721516.2:c.899T>A	XP_006721579.2:p.Met300Lys
XM_011523829.1:c.899T>A	XP_011522131.1:p.Met300Lys
XM_011523830.1:c.899T>A	XP_011522132.1:p.Met300Lys
XR_934021.1:n.1006T>A
XR_934022.1:n.1006T>A
XR_934023.1:n.1006T>A
XM_006721516.3:c.899T>A	XP_006721579.2:p.Met300Lys
XM_011523829.2:c.899T>A	XP_011522131.1:p.Met300Lys
XM_011523830.2:c.899T>A	XP_011522132.1:p.Met300Lys
XM_024450741.1:c.899T>A	XP_024306509.1:p.Met300Lys
XR_934021.2:n.958T>A
XR_934022.2:n.958T>A
XR_934023.2:n.958T>A
NM_000018.4:c.899T>A MANE Select	NP_000009.1:p.Met300Lys
NM_001033859.3:c.833T>A	NP_001029031.1:p.Met278Lys
NM_001270447.2:c.968T>A	NP_001257376.1:p.Met323Lys
NM_001270448.2:c.671T>A	NP_001257377.1:p.Met224Lys