Canonical Allele Identifier: CA497694465

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127698C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224379C>A , CM000679.2:g.7224379C>A	GRCh38
NC_000017.10:g.7127698C>A , CM000679.1:g.7127698C>A	GRCh37
NC_000017.9:g.7068422C>A	NCBI36
NG_007975.1:g.9546C>A
NG_008391.2:g.672G>T
NG_033038.1:g.15166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1591C>A MANE Select	ENSP00000349297.5:p.Arg531=
ENST00000322910.9:c.*1546C>A	ENSP00000325395.5:n.*1546C>A
ENST00000350303.9:c.1525C>A	ENSP00000344152.5:p.Arg509=
ENST00000356839.9:c.1591C>A	ENSP00000349297.5:p.Arg531=
ENST00000542255.6:c.449C>A
ENST00000543245.6:c.1660C>A	ENSP00000438689.2:p.Arg554=
ENST00000578319.5:n.86C>A
ENST00000578711.1:n.875C>A
ENST00000578809.5:n.163C>A
ENST00000579391.1:n.199C>A
ENST00000579425.5:n.707C>A
ENST00000579546.1:c.330C>A
ENST00000579894.5:n.378C>A
ENST00000582450.1:n.99C>A
ENST00000583074.5:n.212C>A
ENST00000583850.5:n.366C>A
ENST00000583858.5:c.522C>A
ENST00000585203.6:n.782C>A
NM_000018.3:c.1591C>A	NP_000009.1:p.Arg531=
NM_001033859.2:c.1525C>A	NP_001029031.1:p.Arg509=
NM_001270447.1:c.1660C>A	NP_001257376.1:p.Arg554=
NM_001270448.1:c.1363C>A	NP_001257377.1:p.Arg455=
XM_006721516.2:c.1591C>A	XP_006721579.2:p.Arg531=
XM_011523829.1:c.1493C>A	XP_011522131.1:p.Ser498Ter
XM_011523830.1:c.1493C>A	XP_011522132.1:p.Ser498Ter
XR_934021.1:n.1698C>A
XR_934022.1:n.1600C>A
XR_934023.1:n.1600C>A
XM_006721516.3:c.1591C>A	XP_006721579.2:p.Arg531=
XM_011523829.2:c.1493C>A	XP_011522131.1:p.Ser498Ter
XM_011523830.2:c.1493C>A	XP_011522132.1:p.Ser498Ter
XM_024450741.1:c.1493C>A	XP_024306509.1:p.Ser498Ter
XR_934021.2:n.1650C>A
XR_934022.2:n.1552C>A
XR_934023.2:n.1552C>A
NM_000018.4:c.1591C>A MANE Select	NP_000009.1:p.Arg531=
NM_001033859.3:c.1525C>A	NP_001029031.1:p.Arg509=
NM_001270447.2:c.1660C>A	NP_001257376.1:p.Arg554=
NM_001270448.2:c.1363C>A	NP_001257377.1:p.Arg455=