Canonical Allele Identifier: CA397726138

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128349T>C (hg19) ; chr17:g.7225030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225030T>C , CM000679.2:g.7225030T>C	GRCh38
NC_000017.10:g.7128349T>C , CM000679.1:g.7128349T>C	GRCh37
NC_000017.9:g.7069073T>C	NCBI36
NG_007975.1:g.10197T>C
NG_008391.2:g.21A>G
NG_033038.1:g.14515A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1901T>C MANE Select	ENSP00000349297.5:p.Phe634Ser
ENST00000322910.9:c.*1856T>C	ENSP00000325395.5:n.*1856T>C
ENST00000350303.9:c.1835T>C	ENSP00000344152.5:p.Phe612Ser
ENST00000356839.9:c.1901T>C	ENSP00000349297.5:p.Phe634Ser
ENST00000542255.6:c.780T>C
ENST00000543245.6:c.1970T>C	ENSP00000438689.2:p.Phe657Ser
ENST00000578033.1:n.326T>C
ENST00000578319.5:n.482T>C
ENST00000578711.1:n.1526T>C
ENST00000578809.5:n.473T>C
ENST00000579425.5:n.1017T>C
ENST00000583848.5:c.267T>C	ENSP00000466487.1:n.267T>C
ENST00000583850.5:n.672T>C
ENST00000583858.5:c.832T>C
NM_000018.3:c.1901T>C	NP_000009.1:p.Phe634Ser
NM_001033859.2:c.1835T>C	NP_001029031.1:p.Phe612Ser
NM_001270447.1:c.1970T>C	NP_001257376.1:p.Phe657Ser
NM_001270448.1:c.1673T>C	NP_001257377.1:p.Phe558Ser
XM_006721516.2:c.1922T>C	XP_006721579.2:p.Phe641Ser
XM_011523829.1:c.1820T>C	XP_011522131.1:p.Phe607Ser
XM_011523830.1:c.1799T>C	XP_011522132.1:p.Phe600Ser
XR_934021.1:n.2004T>C
XR_934022.1:n.1910T>C
XR_934023.1:n.1931T>C
XM_006721516.3:c.1922T>C	XP_006721579.2:p.Phe641Ser
XM_011523829.2:c.1820T>C	XP_011522131.1:p.Phe607Ser
XM_011523830.2:c.1799T>C	XP_011522132.1:p.Phe600Ser
XM_024450741.1:c.1889T>C	XP_024306509.1:p.Phe630Ser
XR_934021.2:n.1956T>C
XR_934022.2:n.1862T>C
XR_934023.2:n.1883T>C
NM_000018.4:c.1901T>C MANE Select	NP_000009.1:p.Phe634Ser
NM_001033859.3:c.1835T>C	NP_001029031.1:p.Phe612Ser
NM_001270447.2:c.1970T>C	NP_001257376.1:p.Phe657Ser
NM_001270448.2:c.1673T>C	NP_001257377.1:p.Phe558Ser