Canonical Allele Identifier: CA397726249

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128402C>T (hg19) ; chr17:g.7225083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225083C>T , CM000679.2:g.7225083C>T	GRCh38
NC_000017.10:g.7128402C>T , CM000679.1:g.7128402C>T	GRCh37
NC_000017.9:g.7069126C>T	NCBI36
NG_007975.1:g.10250C>T
NG_033038.1:g.14462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1954C>T MANE Select	ENSP00000349297.5:p.Pro652Ser
ENST00000322910.9:c.*1909C>T	ENSP00000325395.5:n.*1909C>T
ENST00000350303.9:c.1888C>T	ENSP00000344152.5:p.Pro630Ser
ENST00000356839.9:c.1954C>T	ENSP00000349297.5:p.Pro652Ser
ENST00000542255.6:c.833C>T
ENST00000543245.6:c.2023C>T	ENSP00000438689.2:p.Pro675Ser
ENST00000578033.1:n.379C>T
ENST00000578319.5:n.535C>T
ENST00000578711.1:n.1579C>T
ENST00000578809.5:n.526C>T
ENST00000579425.5:n.1070C>T
ENST00000583848.5:c.320C>T	ENSP00000466487.1:n.320C>T
ENST00000583850.5:n.725C>T
ENST00000583858.5:c.885C>T
NM_000018.3:c.1954C>T	NP_000009.1:p.Pro652Ser
NM_001033859.2:c.1888C>T	NP_001029031.1:p.Pro630Ser
NM_001270447.1:c.2023C>T	NP_001257376.1:p.Pro675Ser
NM_001270448.1:c.1726C>T	NP_001257377.1:p.Pro576Ser
XM_006721516.2:c.1975C>T	XP_006721579.2:p.Pro659Ser
XM_011523829.1:c.1873C>T	XP_011522131.1:p.Pro625Ser
XM_011523830.1:c.1852C>T	XP_011522132.1:p.Pro618Ser
XR_934021.1:n.2057C>T
XR_934022.1:n.1963C>T
XR_934023.1:n.1984C>T
XM_006721516.3:c.1975C>T	XP_006721579.2:p.Pro659Ser
XM_011523829.2:c.1873C>T	XP_011522131.1:p.Pro625Ser
XM_011523830.2:c.1852C>T	XP_011522132.1:p.Pro618Ser
XM_024450741.1:c.1942C>T	XP_024306509.1:p.Pro648Ser
XR_934021.2:n.2009C>T
XR_934022.2:n.1915C>T
XR_934023.2:n.1936C>T
NM_000018.4:c.1954C>T MANE Select	NP_000009.1:p.Pro652Ser
NM_001033859.3:c.1888C>T	NP_001029031.1:p.Pro630Ser
NM_001270447.2:c.2023C>T	NP_001257376.1:p.Pro675Ser
NM_001270448.2:c.1726C>T	NP_001257377.1:p.Pro576Ser