Canonical Allele Identifier: CA397726156

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225037-C-A
• MyVariant Identifiers: chr17:g.7128356C>A (hg19) ; chr17:g.7225037C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225037C>A , CM000679.2:g.7225037C>A	GRCh38
NC_000017.10:g.7128356C>A , CM000679.1:g.7128356C>A	GRCh37
NC_000017.9:g.7069080C>A	NCBI36
NG_007975.1:g.10204C>A
NG_008391.2:g.14G>T
NG_033038.1:g.14508G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1908C>A MANE Select	ENSP00000349297.5:p.Ser636Arg
ENST00000322910.9:c.*1863C>A	ENSP00000325395.5:n.*1863C>A
ENST00000350303.9:c.1842C>A	ENSP00000344152.5:p.Ser614Arg
ENST00000356839.9:c.1908C>A	ENSP00000349297.5:p.Ser636Arg
ENST00000542255.6:c.787C>A
ENST00000543245.6:c.1977C>A	ENSP00000438689.2:p.Ser659Arg
ENST00000578033.1:n.333C>A
ENST00000578319.5:n.489C>A
ENST00000578711.1:n.1533C>A
ENST00000578809.5:n.480C>A
ENST00000579425.5:n.1024C>A
ENST00000583848.5:c.274C>A	ENSP00000466487.1:n.274C>A
ENST00000583850.5:n.679C>A
ENST00000583858.5:c.839C>A
NM_000018.3:c.1908C>A	NP_000009.1:p.Ser636Arg
NM_001033859.2:c.1842C>A	NP_001029031.1:p.Ser614Arg
NM_001270447.1:c.1977C>A	NP_001257376.1:p.Ser659Arg
NM_001270448.1:c.1680C>A	NP_001257377.1:p.Ser560Arg
XM_006721516.2:c.1929C>A	XP_006721579.2:p.Ser643Arg
XM_011523829.1:c.1827C>A	XP_011522131.1:p.Ser609Arg
XM_011523830.1:c.1806C>A	XP_011522132.1:p.Ser602Arg
XR_934021.1:n.2011C>A
XR_934022.1:n.1917C>A
XR_934023.1:n.1938C>A
XM_006721516.3:c.1929C>A	XP_006721579.2:p.Ser643Arg
XM_011523829.2:c.1827C>A	XP_011522131.1:p.Ser609Arg
XM_011523830.2:c.1806C>A	XP_011522132.1:p.Ser602Arg
XM_024450741.1:c.1896C>A	XP_024306509.1:p.Ser632Arg
XR_934021.2:n.1963C>A
XR_934022.2:n.1869C>A
XR_934023.2:n.1890C>A
NM_000018.4:c.1908C>A MANE Select	NP_000009.1:p.Ser636Arg
NM_001033859.3:c.1842C>A	NP_001029031.1:p.Ser614Arg
NM_001270447.2:c.1977C>A	NP_001257376.1:p.Ser659Arg
NM_001270448.2:c.1680C>A	NP_001257377.1:p.Ser560Arg