Canonical Allele Identifier: CA397726237

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225078-G-C
• MyVariant Identifiers: chr17:g.7128397G>C (hg19) ; chr17:g.7225078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225078G>C , CM000679.2:g.7225078G>C	GRCh38
NC_000017.10:g.7128397G>C , CM000679.1:g.7128397G>C	GRCh37
NC_000017.9:g.7069121G>C	NCBI36
NG_007975.1:g.10245G>C
NG_033038.1:g.14467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1949G>C MANE Select	ENSP00000349297.5:p.Ser650Thr
ENST00000322910.9:c.*1904G>C	ENSP00000325395.5:n.*1904G>C
ENST00000350303.9:c.1883G>C	ENSP00000344152.5:p.Ser628Thr
ENST00000356839.9:c.1949G>C	ENSP00000349297.5:p.Ser650Thr
ENST00000542255.6:c.828G>C
ENST00000543245.6:c.2018G>C	ENSP00000438689.2:p.Ser673Thr
ENST00000578033.1:n.374G>C
ENST00000578319.5:n.530G>C
ENST00000578711.1:n.1574G>C
ENST00000578809.5:n.521G>C
ENST00000579425.5:n.1065G>C
ENST00000583848.5:c.315G>C	ENSP00000466487.1:n.315G>C
ENST00000583850.5:n.720G>C
ENST00000583858.5:c.880G>C
NM_000018.3:c.1949G>C	NP_000009.1:p.Ser650Thr
NM_001033859.2:c.1883G>C	NP_001029031.1:p.Ser628Thr
NM_001270447.1:c.2018G>C	NP_001257376.1:p.Ser673Thr
NM_001270448.1:c.1721G>C	NP_001257377.1:p.Ser574Thr
XM_006721516.2:c.1970G>C	XP_006721579.2:p.Ser657Thr
XM_011523829.1:c.1868G>C	XP_011522131.1:p.Ser623Thr
XM_011523830.1:c.1847G>C	XP_011522132.1:p.Ser616Thr
XR_934021.1:n.2052G>C
XR_934022.1:n.1958G>C
XR_934023.1:n.1979G>C
XM_006721516.3:c.1970G>C	XP_006721579.2:p.Ser657Thr
XM_011523829.2:c.1868G>C	XP_011522131.1:p.Ser623Thr
XM_011523830.2:c.1847G>C	XP_011522132.1:p.Ser616Thr
XM_024450741.1:c.1937G>C	XP_024306509.1:p.Ser646Thr
XR_934021.2:n.2004G>C
XR_934022.2:n.1910G>C
XR_934023.2:n.1931G>C
NM_000018.4:c.1949G>C MANE Select	NP_000009.1:p.Ser650Thr
NM_001033859.3:c.1883G>C	NP_001029031.1:p.Ser628Thr
NM_001270447.2:c.2018G>C	NP_001257376.1:p.Ser673Thr
NM_001270448.2:c.1721G>C	NP_001257377.1:p.Ser574Thr