Canonical Allele Identifier: CA397725974

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128203G>T (hg19) ; chr17:g.7224884G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224884G>T , CM000679.2:g.7224884G>T	GRCh38
NC_000017.10:g.7128203G>T , CM000679.1:g.7128203G>T	GRCh37
NC_000017.9:g.7068927G>T	NCBI36
NG_007975.1:g.10051G>T
NG_008391.2:g.167C>A
NG_033038.1:g.14661C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1827G>T MANE Select	ENSP00000349297.5:p.Glu609Asp
ENST00000322910.9:c.*1782G>T	ENSP00000325395.5:n.*1782G>T
ENST00000350303.9:c.1761G>T	ENSP00000344152.5:p.Glu587Asp
ENST00000356839.9:c.1827G>T	ENSP00000349297.5:p.Glu609Asp
ENST00000542255.6:c.706G>T
ENST00000543245.6:c.1896G>T	ENSP00000438689.2:p.Glu632Asp
ENST00000578033.1:n.252G>T
ENST00000578319.5:n.408G>T
ENST00000578711.1:n.1380G>T
ENST00000578809.5:n.399G>T
ENST00000579425.5:n.943G>T
ENST00000579546.1:c.562G>T
ENST00000583848.5:c.193G>T	ENSP00000466487.1:n.193G>T
ENST00000583850.5:n.598G>T
ENST00000583858.5:c.758G>T
NM_000018.3:c.1827G>T	NP_000009.1:p.Glu609Asp
NM_001033859.2:c.1761G>T	NP_001029031.1:p.Glu587Asp
NM_001270447.1:c.1896G>T	NP_001257376.1:p.Glu632Asp
NM_001270448.1:c.1599G>T	NP_001257377.1:p.Glu533Asp
XM_006721516.2:c.1848G>T	XP_006721579.2:p.Glu616Asp
XM_011523829.1:c.1746G>T	XP_011522131.1:p.Glu582Asp
XM_011523830.1:c.1725G>T	XP_011522132.1:p.Glu575Asp
XR_934021.1:n.1930G>T
XR_934022.1:n.1836G>T
XR_934023.1:n.1857G>T
XM_006721516.3:c.1848G>T	XP_006721579.2:p.Glu616Asp
XM_011523829.2:c.1746G>T	XP_011522131.1:p.Glu582Asp
XM_011523830.2:c.1725G>T	XP_011522132.1:p.Glu575Asp
XM_024450741.1:c.1815G>T	XP_024306509.1:p.Glu605Asp
XR_934021.2:n.1882G>T
XR_934022.2:n.1788G>T
XR_934023.2:n.1809G>T
NM_000018.4:c.1827G>T MANE Select	NP_000009.1:p.Glu609Asp
NM_001033859.3:c.1761G>T	NP_001029031.1:p.Glu587Asp
NM_001270447.2:c.1896G>T	NP_001257376.1:p.Glu632Asp
NM_001270448.2:c.1599G>T	NP_001257377.1:p.Glu533Asp