Canonical Allele Identifier: CA497694138

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127337T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224018T>C , CM000679.2:g.7224018T>C	GRCh38
NC_000017.10:g.7127337T>C , CM000679.1:g.7127337T>C	GRCh37
NC_000017.9:g.7068061T>C	NCBI36
NG_007975.1:g.9185T>C
NG_008391.2:g.1033A>G
NG_033038.1:g.15527A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1383T>C MANE Select	ENSP00000349297.5:p.Phe461=
ENST00000322910.9:c.*1338T>C	ENSP00000325395.5:n.*1338T>C
ENST00000350303.9:c.1317T>C	ENSP00000344152.5:p.Phe439=
ENST00000356839.9:c.1383T>C	ENSP00000349297.5:p.Phe461=
ENST00000542255.6:c.241T>C
ENST00000543245.6:c.1452T>C	ENSP00000438689.2:p.Phe484=
ENST00000578711.1:n.514T>C
ENST00000579425.5:n.499T>C
ENST00000579546.1:c.220T>C
ENST00000579894.5:n.94T>C
ENST00000583074.5:n.102T>C
ENST00000583850.5:n.158T>C
ENST00000583858.5:c.412T>C
ENST00000585203.6:n.574T>C
NM_000018.3:c.1383T>C	NP_000009.1:p.Phe461=
NM_001033859.2:c.1317T>C	NP_001029031.1:p.Phe439=
NM_001270447.1:c.1452T>C	NP_001257376.1:p.Phe484=
NM_001270448.1:c.1155T>C	NP_001257377.1:p.Phe385=
XM_006721516.2:c.1383T>C	XP_006721579.2:p.Phe461=
XM_011523829.1:c.1383T>C	XP_011522131.1:p.Phe461=
XM_011523830.1:c.1383T>C	XP_011522132.1:p.Phe461=
XR_934021.1:n.1490T>C
XR_934022.1:n.1490T>C
XR_934023.1:n.1490T>C
XM_006721516.3:c.1383T>C	XP_006721579.2:p.Phe461=
XM_011523829.2:c.1383T>C	XP_011522131.1:p.Phe461=
XM_011523830.2:c.1383T>C	XP_011522132.1:p.Phe461=
XM_024450741.1:c.1383T>C	XP_024306509.1:p.Phe461=
XR_934021.2:n.1442T>C
XR_934022.2:n.1442T>C
XR_934023.2:n.1442T>C
NM_000018.4:c.1383T>C MANE Select	NP_000009.1:p.Phe461=
NM_001033859.3:c.1317T>C	NP_001029031.1:p.Phe439=
NM_001270447.2:c.1452T>C	NP_001257376.1:p.Phe484=
NM_001270448.2:c.1155T>C	NP_001257377.1:p.Phe385=