Canonical Allele Identifier: CA397726261

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128408G>T (hg19) ; chr17:g.7225089G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225089G>T , CM000679.2:g.7225089G>T	GRCh38
NC_000017.10:g.7128408G>T , CM000679.1:g.7128408G>T	GRCh37
NC_000017.9:g.7069132G>T	NCBI36
NG_007975.1:g.10256G>T
NG_033038.1:g.14456C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1960G>T MANE Select	ENSP00000349297.5:p.Gly654Cys
ENST00000322910.9:c.*1915G>T	ENSP00000325395.5:n.*1915G>T
ENST00000350303.9:c.1894G>T	ENSP00000344152.5:p.Gly632Cys
ENST00000356839.9:c.1960G>T	ENSP00000349297.5:p.Gly654Cys
ENST00000542255.6:c.839G>T
ENST00000543245.6:c.2029G>T	ENSP00000438689.2:p.Gly677Cys
ENST00000578033.1:n.385G>T
ENST00000578319.5:n.541G>T
ENST00000578711.1:n.1585G>T
ENST00000578809.5:n.532G>T
ENST00000579425.5:n.1076G>T
ENST00000583848.5:c.326G>T	ENSP00000466487.1:n.326G>T
ENST00000583850.5:n.731G>T
ENST00000583858.5:c.891G>T
NM_000018.3:c.1960G>T	NP_000009.1:p.Gly654Cys
NM_001033859.2:c.1894G>T	NP_001029031.1:p.Gly632Cys
NM_001270447.1:c.2029G>T	NP_001257376.1:p.Gly677Cys
NM_001270448.1:c.1732G>T	NP_001257377.1:p.Gly578Cys
XM_006721516.2:c.1981G>T	XP_006721579.2:p.Gly661Cys
XM_011523829.1:c.1879G>T	XP_011522131.1:p.Gly627Cys
XM_011523830.1:c.1858G>T	XP_011522132.1:p.Gly620Cys
XR_934021.1:n.2063G>T
XR_934022.1:n.1969G>T
XR_934023.1:n.1990G>T
XM_006721516.3:c.1981G>T	XP_006721579.2:p.Gly661Cys
XM_011523829.2:c.1879G>T	XP_011522131.1:p.Gly627Cys
XM_011523830.2:c.1858G>T	XP_011522132.1:p.Gly620Cys
XM_024450741.1:c.1948G>T	XP_024306509.1:p.Gly650Cys
XR_934021.2:n.2015G>T
XR_934022.2:n.1921G>T
XR_934023.2:n.1942G>T
NM_000018.4:c.1960G>T MANE Select	NP_000009.1:p.Gly654Cys
NM_001033859.3:c.1894G>T	NP_001029031.1:p.Gly632Cys
NM_001270447.2:c.2029G>T	NP_001257376.1:p.Gly677Cys
NM_001270448.2:c.1732G>T	NP_001257377.1:p.Gly578Cys