Canonical Allele Identifier: CA397725928

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932776
• ClinVar RCV Id: RCV001200717
• dbSNP Id: rs2071403861
• MyVariant Identifiers: chr17:g.7128183T>C (hg19) ; chr17:g.7224864T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224864T>C , CM000679.2:g.7224864T>C	GRCh38
NC_000017.10:g.7128183T>C , CM000679.1:g.7128183T>C	GRCh37
NC_000017.9:g.7068907T>C	NCBI36
NG_007975.1:g.10031T>C
NG_008391.2:g.187A>G
NG_033038.1:g.14681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1807T>C MANE Select	ENSP00000349297.5:p.Cys603Arg
ENST00000322910.9:c.*1762T>C	ENSP00000325395.5:n.*1762T>C
ENST00000350303.9:c.1741T>C	ENSP00000344152.5:p.Cys581Arg
ENST00000356839.9:c.1807T>C	ENSP00000349297.5:p.Cys603Arg
ENST00000542255.6:c.686T>C
ENST00000543245.6:c.1876T>C	ENSP00000438689.2:p.Cys626Arg
ENST00000578033.1:n.232T>C
ENST00000578319.5:n.388T>C
ENST00000578711.1:n.1360T>C
ENST00000578809.5:n.379T>C
ENST00000579425.5:n.923T>C
ENST00000579546.1:c.542T>C
ENST00000583848.5:c.173T>C	ENSP00000466487.1:n.173T>C
ENST00000583850.5:n.578T>C
ENST00000583858.5:c.738T>C
NM_000018.3:c.1807T>C	NP_000009.1:p.Cys603Arg
NM_001033859.2:c.1741T>C	NP_001029031.1:p.Cys581Arg
NM_001270447.1:c.1876T>C	NP_001257376.1:p.Cys626Arg
NM_001270448.1:c.1579T>C	NP_001257377.1:p.Cys527Arg
XM_006721516.2:c.1828T>C	XP_006721579.2:p.Cys610Arg
XM_011523829.1:c.1726T>C	XP_011522131.1:p.Cys576Arg
XM_011523830.1:c.1705T>C	XP_011522132.1:p.Cys569Arg
XR_934021.1:n.1910T>C
XR_934022.1:n.1816T>C
XR_934023.1:n.1837T>C
XM_006721516.3:c.1828T>C	XP_006721579.2:p.Cys610Arg
XM_011523829.2:c.1726T>C	XP_011522131.1:p.Cys576Arg
XM_011523830.2:c.1705T>C	XP_011522132.1:p.Cys569Arg
XM_024450741.1:c.1795T>C	XP_024306509.1:p.Cys599Arg
XR_934021.2:n.1862T>C
XR_934022.2:n.1768T>C
XR_934023.2:n.1789T>C
NM_000018.4:c.1807T>C MANE Select	NP_000009.1:p.Cys603Arg
NM_001033859.3:c.1741T>C	NP_001029031.1:p.Cys581Arg
NM_001270447.2:c.1876T>C	NP_001257376.1:p.Cys626Arg
NM_001270448.2:c.1579T>C	NP_001257377.1:p.Cys527Arg