Canonical Allele Identifier: CA397726096

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128331A>T (hg19) ; chr17:g.7225012A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225012A>T , CM000679.2:g.7225012A>T	GRCh38
NC_000017.10:g.7128331A>T , CM000679.1:g.7128331A>T	GRCh37
NC_000017.9:g.7069055A>T	NCBI36
NG_007975.1:g.10179A>T
NG_008391.2:g.39T>A
NG_033038.1:g.14533T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1883A>T MANE Select	ENSP00000349297.5:p.Gln628Leu
ENST00000322910.9:c.*1838A>T	ENSP00000325395.5:n.*1838A>T
ENST00000350303.9:c.1817A>T	ENSP00000344152.5:p.Gln606Leu
ENST00000356839.9:c.1883A>T	ENSP00000349297.5:p.Gln628Leu
ENST00000542255.6:c.762A>T
ENST00000543245.6:c.1952A>T	ENSP00000438689.2:p.Gln651Leu
ENST00000578033.1:n.308A>T
ENST00000578319.5:n.464A>T
ENST00000578711.1:n.1508A>T
ENST00000578809.5:n.455A>T
ENST00000579425.5:n.999A>T
ENST00000583848.5:c.249A>T	ENSP00000466487.1:n.249A>T
ENST00000583850.5:n.654A>T
ENST00000583858.5:c.814A>T
NM_000018.3:c.1883A>T	NP_000009.1:p.Gln628Leu
NM_001033859.2:c.1817A>T	NP_001029031.1:p.Gln606Leu
NM_001270447.1:c.1952A>T	NP_001257376.1:p.Gln651Leu
NM_001270448.1:c.1655A>T	NP_001257377.1:p.Gln552Leu
XM_006721516.2:c.1904A>T	XP_006721579.2:p.Gln635Leu
XM_011523829.1:c.1802A>T	XP_011522131.1:p.Gln601Leu
XM_011523830.1:c.1781A>T	XP_011522132.1:p.Gln594Leu
XR_934021.1:n.1986A>T
XR_934022.1:n.1892A>T
XR_934023.1:n.1913A>T
XM_006721516.3:c.1904A>T	XP_006721579.2:p.Gln635Leu
XM_011523829.2:c.1802A>T	XP_011522131.1:p.Gln601Leu
XM_011523830.2:c.1781A>T	XP_011522132.1:p.Gln594Leu
XM_024450741.1:c.1871A>T	XP_024306509.1:p.Gln624Leu
XR_934021.2:n.1938A>T
XR_934022.2:n.1844A>T
XR_934023.2:n.1865A>T
NM_000018.4:c.1883A>T MANE Select	NP_000009.1:p.Gln628Leu
NM_001033859.3:c.1817A>T	NP_001029031.1:p.Gln606Leu
NM_001270447.2:c.1952A>T	NP_001257376.1:p.Gln651Leu
NM_001270448.2:c.1655A>T	NP_001257377.1:p.Gln552Leu