Canonical Allele Identifier: CA397725960

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1819T>G MANE Select	ENSP00000349297.5:p.Cys607Gly
ENST00000322910.9:c.*1774T>G	ENSP00000325395.5:n.*1774T>G
ENST00000350303.9:c.1753T>G	ENSP00000344152.5:p.Cys585Gly
ENST00000356839.9:c.1819T>G	ENSP00000349297.5:p.Cys607Gly
ENST00000542255.6:c.698T>G
ENST00000543245.6:c.1888T>G	ENSP00000438689.2:p.Cys630Gly
ENST00000578033.1:n.244T>G
ENST00000578319.5:n.400T>G
ENST00000578711.1:n.1372T>G
ENST00000578809.5:n.391T>G
ENST00000579425.5:n.935T>G
ENST00000579546.1:c.554T>G
ENST00000583848.5:c.185T>G	ENSP00000466487.1:n.185T>G
ENST00000583850.5:n.590T>G
ENST00000583858.5:c.750T>G
NM_000018.3:c.1819T>G	NP_000009.1:p.Cys607Gly
NM_001033859.2:c.1753T>G	NP_001029031.1:p.Cys585Gly
NM_001270447.1:c.1888T>G	NP_001257376.1:p.Cys630Gly
NM_001270448.1:c.1591T>G	NP_001257377.1:p.Cys531Gly
XM_006721516.2:c.1840T>G	XP_006721579.2:p.Cys614Gly
XM_011523829.1:c.1738T>G	XP_011522131.1:p.Cys580Gly
XM_011523830.1:c.1717T>G	XP_011522132.1:p.Cys573Gly
XR_934021.1:n.1922T>G
XR_934022.1:n.1828T>G
XR_934023.1:n.1849T>G
XM_006721516.3:c.1840T>G	XP_006721579.2:p.Cys614Gly
XM_011523829.2:c.1738T>G	XP_011522131.1:p.Cys580Gly
XM_011523830.2:c.1717T>G	XP_011522132.1:p.Cys573Gly
XM_024450741.1:c.1807T>G	XP_024306509.1:p.Cys603Gly
XR_934021.2:n.1874T>G
XR_934022.2:n.1780T>G
XR_934023.2:n.1801T>G
NM_000018.4:c.1819T>G MANE Select	NP_000009.1:p.Cys607Gly
NM_001033859.3:c.1753T>G	NP_001029031.1:p.Cys585Gly
NM_001270447.2:c.1888T>G	NP_001257376.1:p.Cys630Gly
NM_001270448.2:c.1591T>G	NP_001257377.1:p.Cys531Gly