Canonical Allele Identifier: CA397725442

Gene: ACADVL

Linked Data

• dbSNP Id: rs772763960
• gnomAD v2: 17-7127699-G-C
• gnomAD v4: 17-7224380-G-C
• MyVariant Identifiers: chr17:g.7127699G>C (hg19) ; chr17:g.7224380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224380G>C , CM000679.2:g.7224380G>C	GRCh38
NC_000017.10:g.7127699G>C , CM000679.1:g.7127699G>C	GRCh37
NC_000017.9:g.7068423G>C	NCBI36
NG_007975.1:g.9547G>C
NG_008391.2:g.671C>G
NG_033038.1:g.15165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1592G>C MANE Select	ENSP00000349297.5:p.Arg531Pro
ENST00000322910.9:c.*1547G>C	ENSP00000325395.5:n.*1547G>C
ENST00000350303.9:c.1526G>C	ENSP00000344152.5:p.Arg509Pro
ENST00000356839.9:c.1592G>C	ENSP00000349297.5:p.Arg531Pro
ENST00000542255.6:c.450G>C
ENST00000543245.6:c.1661G>C	ENSP00000438689.2:p.Arg554Pro
ENST00000578319.5:n.87G>C
ENST00000578711.1:n.876G>C
ENST00000578809.5:n.164G>C
ENST00000579391.1:n.200G>C
ENST00000579425.5:n.708G>C
ENST00000579546.1:c.331G>C
ENST00000579894.5:n.379G>C
ENST00000582450.1:n.100G>C
ENST00000583074.5:n.213G>C
ENST00000583850.5:n.367G>C
ENST00000583858.5:c.523G>C
ENST00000585203.6:n.783G>C
NM_000018.3:c.1592G>C	NP_000009.1:p.Arg531Pro
NM_001033859.2:c.1526G>C	NP_001029031.1:p.Arg509Pro
NM_001270447.1:c.1661G>C	NP_001257376.1:p.Arg554Pro
NM_001270448.1:c.1364G>C	NP_001257377.1:p.Arg455Pro
XM_006721516.2:c.1592G>C	XP_006721579.2:p.Arg531Pro
XM_011523829.1:c.1494G>C	XP_011522131.1:p.Ser498=
XM_011523830.1:c.1494G>C	XP_011522132.1:p.Ser498=
XR_934021.1:n.1699G>C
XR_934022.1:n.1601G>C
XR_934023.1:n.1601G>C
XM_006721516.3:c.1592G>C	XP_006721579.2:p.Arg531Pro
XM_011523829.2:c.1494G>C	XP_011522131.1:p.Ser498=
XM_011523830.2:c.1494G>C	XP_011522132.1:p.Ser498=
XM_024450741.1:c.1494G>C	XP_024306509.1:p.Ser498=
XR_934021.2:n.1651G>C
XR_934022.2:n.1553G>C
XR_934023.2:n.1553G>C
NM_000018.4:c.1592G>C MANE Select	NP_000009.1:p.Arg531Pro
NM_001033859.3:c.1526G>C	NP_001029031.1:p.Arg509Pro
NM_001270447.2:c.1661G>C	NP_001257376.1:p.Arg554Pro
NM_001270448.2:c.1364G>C	NP_001257377.1:p.Arg455Pro