Canonical Allele Identifier: CA397725958

Gene: ACADVL

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1819T>A MANE Select	ENSP00000349297.5:p.Cys607Ser
ENST00000322910.9:c.*1774T>A	ENSP00000325395.5:n.*1774T>A
ENST00000350303.9:c.1753T>A	ENSP00000344152.5:p.Cys585Ser
ENST00000356839.9:c.1819T>A	ENSP00000349297.5:p.Cys607Ser
ENST00000542255.6:c.698T>A
ENST00000543245.6:c.1888T>A	ENSP00000438689.2:p.Cys630Ser
ENST00000578033.1:n.244T>A
ENST00000578319.5:n.400T>A
ENST00000578711.1:n.1372T>A
ENST00000578809.5:n.391T>A
ENST00000579425.5:n.935T>A
ENST00000579546.1:c.554T>A
ENST00000583848.5:c.185T>A	ENSP00000466487.1:n.185T>A
ENST00000583850.5:n.590T>A
ENST00000583858.5:c.750T>A
NM_000018.3:c.1819T>A	NP_000009.1:p.Cys607Ser
NM_001033859.2:c.1753T>A	NP_001029031.1:p.Cys585Ser
NM_001270447.1:c.1888T>A	NP_001257376.1:p.Cys630Ser
NM_001270448.1:c.1591T>A	NP_001257377.1:p.Cys531Ser
XM_006721516.2:c.1840T>A	XP_006721579.2:p.Cys614Ser
XM_011523829.1:c.1738T>A	XP_011522131.1:p.Cys580Ser
XM_011523830.1:c.1717T>A	XP_011522132.1:p.Cys573Ser
XR_934021.1:n.1922T>A
XR_934022.1:n.1828T>A
XR_934023.1:n.1849T>A
XM_006721516.3:c.1840T>A	XP_006721579.2:p.Cys614Ser
XM_011523829.2:c.1738T>A	XP_011522131.1:p.Cys580Ser
XM_011523830.2:c.1717T>A	XP_011522132.1:p.Cys573Ser
XM_024450741.1:c.1807T>A	XP_024306509.1:p.Cys603Ser
XR_934021.2:n.1874T>A
XR_934022.2:n.1780T>A
XR_934023.2:n.1801T>A
NM_000018.4:c.1819T>A MANE Select	NP_000009.1:p.Cys607Ser
NM_001033859.3:c.1753T>A	NP_001029031.1:p.Cys585Ser
NM_001270447.2:c.1888T>A	NP_001257376.1:p.Cys630Ser
NM_001270448.2:c.1591T>A	NP_001257377.1:p.Cys531Ser