Canonical Allele Identifier: CA397725907

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128174A>C (hg19) ; chr17:g.7224855A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224855A>C , CM000679.2:g.7224855A>C	GRCh38
NC_000017.10:g.7128174A>C , CM000679.1:g.7128174A>C	GRCh37
NC_000017.9:g.7068898A>C	NCBI36
NG_007975.1:g.10022A>C
NG_008391.2:g.196T>G
NG_033038.1:g.14690T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1798A>C MANE Select	ENSP00000349297.5:p.Lys600Gln
ENST00000322910.9:c.*1753A>C	ENSP00000325395.5:n.*1753A>C
ENST00000350303.9:c.1732A>C	ENSP00000344152.5:p.Lys578Gln
ENST00000356839.9:c.1798A>C	ENSP00000349297.5:p.Lys600Gln
ENST00000542255.6:c.677A>C
ENST00000543245.6:c.1867A>C	ENSP00000438689.2:p.Lys623Gln
ENST00000578033.1:n.223A>C
ENST00000578319.5:n.379A>C
ENST00000578711.1:n.1351A>C
ENST00000578809.5:n.370A>C
ENST00000579425.5:n.914A>C
ENST00000579546.1:c.533A>C
ENST00000583848.5:c.164A>C	ENSP00000466487.1:n.164A>C
ENST00000583850.5:n.569A>C
ENST00000583858.5:c.729A>C
NM_000018.3:c.1798A>C	NP_000009.1:p.Lys600Gln
NM_001033859.2:c.1732A>C	NP_001029031.1:p.Lys578Gln
NM_001270447.1:c.1867A>C	NP_001257376.1:p.Lys623Gln
NM_001270448.1:c.1570A>C	NP_001257377.1:p.Lys524Gln
XM_006721516.2:c.1819A>C	XP_006721579.2:p.Lys607Gln
XM_011523829.1:c.1717A>C	XP_011522131.1:p.Lys573Gln
XM_011523830.1:c.1696A>C	XP_011522132.1:p.Lys566Gln
XR_934021.1:n.1901A>C
XR_934022.1:n.1807A>C
XR_934023.1:n.1828A>C
XM_006721516.3:c.1819A>C	XP_006721579.2:p.Lys607Gln
XM_011523829.2:c.1717A>C	XP_011522131.1:p.Lys573Gln
XM_011523830.2:c.1696A>C	XP_011522132.1:p.Lys566Gln
XM_024450741.1:c.1786A>C	XP_024306509.1:p.Lys596Gln
XR_934021.2:n.1853A>C
XR_934022.2:n.1759A>C
XR_934023.2:n.1780A>C
NM_000018.4:c.1798A>C MANE Select	NP_000009.1:p.Lys600Gln
NM_001033859.3:c.1732A>C	NP_001029031.1:p.Lys578Gln
NM_001270447.2:c.1867A>C	NP_001257376.1:p.Lys623Gln
NM_001270448.2:c.1570A>C	NP_001257377.1:p.Lys524Gln