Canonical Allele Identifier: CA397725959

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128195T>C (hg19) ; chr17:g.7224876T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224876T>C , CM000679.2:g.7224876T>C	GRCh38
NC_000017.10:g.7128195T>C , CM000679.1:g.7128195T>C	GRCh37
NC_000017.9:g.7068919T>C	NCBI36
NG_007975.1:g.10043T>C
NG_008391.2:g.175A>G
NG_033038.1:g.14669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1819T>C MANE Select	ENSP00000349297.5:p.Cys607Arg
ENST00000322910.9:c.*1774T>C	ENSP00000325395.5:n.*1774T>C
ENST00000350303.9:c.1753T>C	ENSP00000344152.5:p.Cys585Arg
ENST00000356839.9:c.1819T>C	ENSP00000349297.5:p.Cys607Arg
ENST00000542255.6:c.698T>C
ENST00000543245.6:c.1888T>C	ENSP00000438689.2:p.Cys630Arg
ENST00000578033.1:n.244T>C
ENST00000578319.5:n.400T>C
ENST00000578711.1:n.1372T>C
ENST00000578809.5:n.391T>C
ENST00000579425.5:n.935T>C
ENST00000579546.1:c.554T>C
ENST00000583848.5:c.185T>C	ENSP00000466487.1:n.185T>C
ENST00000583850.5:n.590T>C
ENST00000583858.5:c.750T>C
NM_000018.3:c.1819T>C	NP_000009.1:p.Cys607Arg
NM_001033859.2:c.1753T>C	NP_001029031.1:p.Cys585Arg
NM_001270447.1:c.1888T>C	NP_001257376.1:p.Cys630Arg
NM_001270448.1:c.1591T>C	NP_001257377.1:p.Cys531Arg
XM_006721516.2:c.1840T>C	XP_006721579.2:p.Cys614Arg
XM_011523829.1:c.1738T>C	XP_011522131.1:p.Cys580Arg
XM_011523830.1:c.1717T>C	XP_011522132.1:p.Cys573Arg
XR_934021.1:n.1922T>C
XR_934022.1:n.1828T>C
XR_934023.1:n.1849T>C
XM_006721516.3:c.1840T>C	XP_006721579.2:p.Cys614Arg
XM_011523829.2:c.1738T>C	XP_011522131.1:p.Cys580Arg
XM_011523830.2:c.1717T>C	XP_011522132.1:p.Cys573Arg
XM_024450741.1:c.1807T>C	XP_024306509.1:p.Cys603Arg
XR_934021.2:n.1874T>C
XR_934022.2:n.1780T>C
XR_934023.2:n.1801T>C
NM_000018.4:c.1819T>C MANE Select	NP_000009.1:p.Cys607Arg
NM_001033859.3:c.1753T>C	NP_001029031.1:p.Cys585Arg
NM_001270447.2:c.1888T>C	NP_001257376.1:p.Cys630Arg
NM_001270448.2:c.1591T>C	NP_001257377.1:p.Cys531Arg