Canonical Allele Identifier: CA397725311

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127558A>T (hg19) ; chr17:g.7224239A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224239A>T , CM000679.2:g.7224239A>T	GRCh38
NC_000017.10:g.7127558A>T , CM000679.1:g.7127558A>T	GRCh37
NC_000017.9:g.7068282A>T	NCBI36
NG_007975.1:g.9406A>T
NG_008391.2:g.812T>A
NG_033038.1:g.15306T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1528A>T MANE Select	ENSP00000349297.5:p.Arg510Trp
ENST00000322910.9:c.*1483A>T	ENSP00000325395.5:n.*1483A>T
ENST00000350303.9:c.1462A>T	ENSP00000344152.5:p.Arg488Trp
ENST00000356839.9:c.1528A>T	ENSP00000349297.5:p.Arg510Trp
ENST00000542255.6:c.386A>T
ENST00000543245.6:c.1597A>T	ENSP00000438689.2:p.Arg533Trp
ENST00000578319.5:n.23A>T
ENST00000578711.1:n.735A>T
ENST00000578809.5:n.23A>T
ENST00000579391.1:n.136A>T
ENST00000579425.5:n.644A>T
ENST00000579546.1:c.272-82A>T
ENST00000579894.5:n.315A>T
ENST00000583074.5:n.154-82A>T
ENST00000583850.5:n.303A>T
ENST00000583858.5:c.464-82A>T
ENST00000585203.6:n.719A>T
NM_000018.3:c.1528A>T	NP_000009.1:p.Arg510Trp
NM_001033859.2:c.1462A>T	NP_001029031.1:p.Arg488Trp
NM_001270447.1:c.1597A>T	NP_001257376.1:p.Arg533Trp
NM_001270448.1:c.1300A>T	NP_001257377.1:p.Arg434Trp
XM_006721516.2:c.1528A>T	XP_006721579.2:p.Arg510Trp
XM_011523829.1:c.1435-82A>T	XP_011522131.1:n.1435-82A>T
XM_011523830.1:c.1435-82A>T	XP_011522132.1:n.1435-82A>T
XR_934021.1:n.1635A>T
XR_934022.1:n.1542-82A>T
XR_934023.1:n.1542-82A>T
XM_006721516.3:c.1528A>T	XP_006721579.2:p.Arg510Trp
XM_011523829.2:c.1435-82A>T	XP_011522131.1:n.1435-82A>T
XM_011523830.2:c.1435-82A>T	XP_011522132.1:n.1435-82A>T
XM_024450741.1:c.1435-82A>T	XP_024306509.1:n.1435-82A>T
XR_934021.2:n.1587A>T
XR_934022.2:n.1494-82A>T
XR_934023.2:n.1494-82A>T
NM_000018.4:c.1528A>T MANE Select	NP_000009.1:p.Arg510Trp
NM_001033859.3:c.1462A>T	NP_001029031.1:p.Arg488Trp
NM_001270447.2:c.1597A>T	NP_001257376.1:p.Arg533Trp
NM_001270448.2:c.1300A>T	NP_001257377.1:p.Arg434Trp