Canonical Allele Identifier: CA397725622

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127868G>A (hg19) ; chr17:g.7224549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224549G>A , CM000679.2:g.7224549G>A	GRCh38
NC_000017.10:g.7127868G>A , CM000679.1:g.7127868G>A	GRCh37
NC_000017.9:g.7068592G>A	NCBI36
NG_007975.1:g.9716G>A
NG_008391.2:g.502C>T
NG_033038.1:g.14996C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1675G>A MANE Select	ENSP00000349297.5:p.Val559Ile
ENST00000322910.9:c.*1630G>A	ENSP00000325395.5:n.*1630G>A
ENST00000350303.9:c.1609G>A	ENSP00000344152.5:p.Val537Ile
ENST00000356839.9:c.1675G>A	ENSP00000349297.5:p.Val559Ile
ENST00000542255.6:c.533G>A
ENST00000543245.6:c.1744G>A	ENSP00000438689.2:p.Val582Ile
ENST00000578319.5:n.256G>A
ENST00000578711.1:n.1045G>A
ENST00000578809.5:n.247G>A
ENST00000579391.1:n.279G>A
ENST00000579425.5:n.791G>A
ENST00000579546.1:c.410G>A
ENST00000582450.1:n.183G>A
ENST00000583074.5:n.296G>A
ENST00000583848.5:c.61G>A	ENSP00000466487.1:p.Val21Ile
ENST00000583850.5:n.446G>A
ENST00000583858.5:c.606G>A
ENST00000585203.6:n.866G>A
NM_000018.3:c.1675G>A	NP_000009.1:p.Val559Ile
NM_001033859.2:c.1609G>A	NP_001029031.1:p.Val537Ile
NM_001270447.1:c.1744G>A	NP_001257376.1:p.Val582Ile
NM_001270448.1:c.1447G>A	NP_001257377.1:p.Val483Ile
XM_006721516.2:c.1675G>A	XP_006721579.2:p.Val559Ile
XM_011523829.1:c.1573G>A	XP_011522131.1:p.Val525Ile
XM_011523830.1:c.1573G>A	XP_011522132.1:p.Val525Ile
XR_934021.1:n.1778G>A
XR_934022.1:n.1684G>A
XR_934023.1:n.1684G>A
XM_006721516.3:c.1675G>A	XP_006721579.2:p.Val559Ile
XM_011523829.2:c.1573G>A	XP_011522131.1:p.Val525Ile
XM_011523830.2:c.1573G>A	XP_011522132.1:p.Val525Ile
XM_024450741.1:c.1663G>A	XP_024306509.1:p.Val555Ile
XR_934021.2:n.1730G>A
XR_934022.2:n.1636G>A
XR_934023.2:n.1636G>A
NM_000018.4:c.1675G>A MANE Select	NP_000009.1:p.Val559Ile
NM_001033859.3:c.1609G>A	NP_001029031.1:p.Val537Ile
NM_001270447.2:c.1744G>A	NP_001257376.1:p.Val582Ile
NM_001270448.2:c.1447G>A	NP_001257377.1:p.Val483Ile