Canonical Allele Identifier: CA397726251

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1954C>A MANE Select	ENSP00000349297.5:p.Pro652Thr
ENST00000322910.9:c.*1909C>A	ENSP00000325395.5:n.*1909C>A
ENST00000350303.9:c.1888C>A	ENSP00000344152.5:p.Pro630Thr
ENST00000356839.9:c.1954C>A	ENSP00000349297.5:p.Pro652Thr
ENST00000542255.6:c.833C>A
ENST00000543245.6:c.2023C>A	ENSP00000438689.2:p.Pro675Thr
ENST00000578033.1:n.379C>A
ENST00000578319.5:n.535C>A
ENST00000578711.1:n.1579C>A
ENST00000578809.5:n.526C>A
ENST00000579425.5:n.1070C>A
ENST00000583848.5:c.320C>A	ENSP00000466487.1:n.320C>A
ENST00000583850.5:n.725C>A
ENST00000583858.5:c.885C>A
NM_000018.3:c.1954C>A	NP_000009.1:p.Pro652Thr
NM_001033859.2:c.1888C>A	NP_001029031.1:p.Pro630Thr
NM_001270447.1:c.2023C>A	NP_001257376.1:p.Pro675Thr
NM_001270448.1:c.1726C>A	NP_001257377.1:p.Pro576Thr
XM_006721516.2:c.1975C>A	XP_006721579.2:p.Pro659Thr
XM_011523829.1:c.1873C>A	XP_011522131.1:p.Pro625Thr
XM_011523830.1:c.1852C>A	XP_011522132.1:p.Pro618Thr
XR_934021.1:n.2057C>A
XR_934022.1:n.1963C>A
XR_934023.1:n.1984C>A
XM_006721516.3:c.1975C>A	XP_006721579.2:p.Pro659Thr
XM_011523829.2:c.1873C>A	XP_011522131.1:p.Pro625Thr
XM_011523830.2:c.1852C>A	XP_011522132.1:p.Pro618Thr
XM_024450741.1:c.1942C>A	XP_024306509.1:p.Pro648Thr
XR_934021.2:n.2009C>A
XR_934022.2:n.1915C>A
XR_934023.2:n.1936C>A
NM_000018.4:c.1954C>A MANE Select	NP_000009.1:p.Pro652Thr
NM_001033859.3:c.1888C>A	NP_001029031.1:p.Pro630Thr
NM_001270447.2:c.2023C>A	NP_001257376.1:p.Pro675Thr
NM_001270448.2:c.1726C>A	NP_001257377.1:p.Pro576Thr