Canonical Allele Identifier: CA397725492

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127806G>T (hg19) ; chr17:g.7224487G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224487G>T , CM000679.2:g.7224487G>T	GRCh38
NC_000017.10:g.7127806G>T , CM000679.1:g.7127806G>T	GRCh37
NC_000017.9:g.7068530G>T	NCBI36
NG_007975.1:g.9654G>T
NG_008391.2:g.564C>A
NG_033038.1:g.15058C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1613G>T MANE Select	ENSP00000349297.5:p.Arg538Leu
ENST00000322910.9:c.*1568G>T	ENSP00000325395.5:n.*1568G>T
ENST00000350303.9:c.1547G>T	ENSP00000344152.5:p.Arg516Leu
ENST00000356839.9:c.1613G>T	ENSP00000349297.5:p.Arg538Leu
ENST00000542255.6:c.471G>T
ENST00000543245.6:c.1682G>T	ENSP00000438689.2:p.Arg561Leu
ENST00000578319.5:n.194G>T
ENST00000578711.1:n.983G>T
ENST00000578809.5:n.185G>T
ENST00000579391.1:n.217G>T
ENST00000579425.5:n.729G>T
ENST00000579546.1:c.348G>T
ENST00000579894.5:n.400G>T
ENST00000582450.1:n.121G>T
ENST00000583074.5:n.234G>T
ENST00000583850.5:n.384G>T
ENST00000583858.5:c.544G>T
ENST00000585203.6:n.804G>T
NM_000018.3:c.1613G>T	NP_000009.1:p.Arg538Leu
NM_001033859.2:c.1547G>T	NP_001029031.1:p.Arg516Leu
NM_001270447.1:c.1682G>T	NP_001257376.1:p.Arg561Leu
NM_001270448.1:c.1385G>T	NP_001257377.1:p.Arg462Leu
XM_006721516.2:c.1613G>T	XP_006721579.2:p.Arg538Leu
XM_011523829.1:c.1511G>T	XP_011522131.1:p.Arg504Leu
XM_011523830.1:c.1511G>T	XP_011522132.1:p.Arg504Leu
XR_934021.1:n.1716G>T
XR_934022.1:n.1622G>T
XR_934023.1:n.1622G>T
XM_006721516.3:c.1613G>T	XP_006721579.2:p.Arg538Leu
XM_011523829.2:c.1511G>T	XP_011522131.1:p.Arg504Leu
XM_011523830.2:c.1511G>T	XP_011522132.1:p.Arg504Leu
XM_024450741.1:c.1601G>T	XP_024306509.1:p.Arg534Leu
XR_934021.2:n.1668G>T
XR_934022.2:n.1574G>T
XR_934023.2:n.1574G>T
NM_000018.4:c.1613G>T MANE Select	NP_000009.1:p.Arg538Leu
NM_001033859.3:c.1547G>T	NP_001029031.1:p.Arg516Leu
NM_001270447.2:c.1682G>T	NP_001257376.1:p.Arg561Leu
NM_001270448.2:c.1385G>T	NP_001257377.1:p.Arg462Leu