Canonical Allele Identifier: CA397725666

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071393854
• gnomAD v4: 17-7224651-T-C
• MyVariant Identifiers: chr17:g.7127970T>C (hg19) ; chr17:g.7224651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224651T>C , CM000679.2:g.7224651T>C	GRCh38
NC_000017.10:g.7127970T>C , CM000679.1:g.7127970T>C	GRCh37
NC_000017.9:g.7068694T>C	NCBI36
NG_007975.1:g.9818T>C
NG_008391.2:g.400A>G
NG_033038.1:g.14894A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1688T>C MANE Select	ENSP00000349297.5:p.Phe563Ser
ENST00000322910.9:c.*1643T>C	ENSP00000325395.5:n.*1643T>C
ENST00000350303.9:c.1622T>C	ENSP00000344152.5:p.Phe541Ser
ENST00000356839.9:c.1688T>C	ENSP00000349297.5:p.Phe563Ser
ENST00000542255.6:c.537-64T>C
ENST00000543245.6:c.1757T>C	ENSP00000438689.2:p.Phe586Ser
ENST00000578033.1:n.19T>C
ENST00000578319.5:n.269T>C
ENST00000578711.1:n.1147T>C
ENST00000578809.5:n.260T>C
ENST00000579425.5:n.804T>C
ENST00000579546.1:c.423T>C
ENST00000582450.1:n.285T>C
ENST00000583074.5:n.300-64T>C
ENST00000583848.5:c.65-11T>C	ENSP00000466487.1:n.65-11T>C
ENST00000583850.5:n.459T>C
ENST00000583858.5:c.619T>C
ENST00000585203.6:n.879T>C
NM_000018.3:c.1688T>C	NP_000009.1:p.Phe563Ser
NM_001033859.2:c.1622T>C	NP_001029031.1:p.Phe541Ser
NM_001270447.1:c.1757T>C	NP_001257376.1:p.Phe586Ser
NM_001270448.1:c.1460T>C	NP_001257377.1:p.Phe487Ser
XM_006721516.2:c.1679-64T>C	XP_006721579.2:n.1679-64T>C
XM_011523829.1:c.1577-64T>C	XP_011522131.1:n.1577-64T>C
XM_011523830.1:c.1586T>C	XP_011522132.1:p.Phe529Ser
XR_934021.1:n.1791T>C
XR_934022.1:n.1697T>C
XR_934023.1:n.1688-64T>C
XM_006721516.3:c.1679-64T>C	XP_006721579.2:n.1679-64T>C
XM_011523829.2:c.1577-64T>C	XP_011522131.1:n.1577-64T>C
XM_011523830.2:c.1586T>C	XP_011522132.1:p.Phe529Ser
XM_024450741.1:c.1676T>C	XP_024306509.1:p.Phe559Ser
XR_934021.2:n.1743T>C
XR_934022.2:n.1649T>C
XR_934023.2:n.1640-64T>C
NM_000018.4:c.1688T>C MANE Select	NP_000009.1:p.Phe563Ser
NM_001033859.3:c.1622T>C	NP_001029031.1:p.Phe541Ser
NM_001270447.2:c.1757T>C	NP_001257376.1:p.Phe586Ser
NM_001270448.2:c.1460T>C	NP_001257377.1:p.Phe487Ser