Canonical Allele Identifier: CA397726250

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1954C>G MANE Select	ENSP00000349297.5:p.Pro652Ala
ENST00000322910.9:c.*1909C>G	ENSP00000325395.5:n.*1909C>G
ENST00000350303.9:c.1888C>G	ENSP00000344152.5:p.Pro630Ala
ENST00000356839.9:c.1954C>G	ENSP00000349297.5:p.Pro652Ala
ENST00000542255.6:c.833C>G
ENST00000543245.6:c.2023C>G	ENSP00000438689.2:p.Pro675Ala
ENST00000578033.1:n.379C>G
ENST00000578319.5:n.535C>G
ENST00000578711.1:n.1579C>G
ENST00000578809.5:n.526C>G
ENST00000579425.5:n.1070C>G
ENST00000583848.5:c.320C>G	ENSP00000466487.1:n.320C>G
ENST00000583850.5:n.725C>G
ENST00000583858.5:c.885C>G
NM_000018.3:c.1954C>G	NP_000009.1:p.Pro652Ala
NM_001033859.2:c.1888C>G	NP_001029031.1:p.Pro630Ala
NM_001270447.1:c.2023C>G	NP_001257376.1:p.Pro675Ala
NM_001270448.1:c.1726C>G	NP_001257377.1:p.Pro576Ala
XM_006721516.2:c.1975C>G	XP_006721579.2:p.Pro659Ala
XM_011523829.1:c.1873C>G	XP_011522131.1:p.Pro625Ala
XM_011523830.1:c.1852C>G	XP_011522132.1:p.Pro618Ala
XR_934021.1:n.2057C>G
XR_934022.1:n.1963C>G
XR_934023.1:n.1984C>G
XM_006721516.3:c.1975C>G	XP_006721579.2:p.Pro659Ala
XM_011523829.2:c.1873C>G	XP_011522131.1:p.Pro625Ala
XM_011523830.2:c.1852C>G	XP_011522132.1:p.Pro618Ala
XM_024450741.1:c.1942C>G	XP_024306509.1:p.Pro648Ala
XR_934021.2:n.2009C>G
XR_934022.2:n.1915C>G
XR_934023.2:n.1936C>G
NM_000018.4:c.1954C>G MANE Select	NP_000009.1:p.Pro652Ala
NM_001033859.3:c.1888C>G	NP_001029031.1:p.Pro630Ala
NM_001270447.2:c.2023C>G	NP_001257376.1:p.Pro675Ala
NM_001270448.2:c.1726C>G	NP_001257377.1:p.Pro576Ala