Canonical Allele Identifier: CA397726056

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128312C>A (hg19) ; chr17:g.7224993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224993C>A , CM000679.2:g.7224993C>A	GRCh38
NC_000017.10:g.7128312C>A , CM000679.1:g.7128312C>A	GRCh37
NC_000017.9:g.7069036C>A	NCBI36
NG_007975.1:g.10160C>A
NG_008391.2:g.58G>T
NG_033038.1:g.14552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1864C>A MANE Select	ENSP00000349297.5:p.Gln622Lys
ENST00000322910.9:c.*1819C>A	ENSP00000325395.5:n.*1819C>A
ENST00000350303.9:c.1798C>A	ENSP00000344152.5:p.Gln600Lys
ENST00000356839.9:c.1864C>A	ENSP00000349297.5:p.Gln622Lys
ENST00000542255.6:c.743C>A
ENST00000543245.6:c.1933C>A	ENSP00000438689.2:p.Gln645Lys
ENST00000578033.1:n.289C>A
ENST00000578319.5:n.445C>A
ENST00000578711.1:n.1489C>A
ENST00000578809.5:n.436C>A
ENST00000579425.5:n.980C>A
ENST00000583848.5:c.230C>A	ENSP00000466487.1:n.230C>A
ENST00000583850.5:n.635C>A
ENST00000583858.5:c.795C>A
NM_000018.3:c.1864C>A	NP_000009.1:p.Gln622Lys
NM_001033859.2:c.1798C>A	NP_001029031.1:p.Gln600Lys
NM_001270447.1:c.1933C>A	NP_001257376.1:p.Gln645Lys
NM_001270448.1:c.1636C>A	NP_001257377.1:p.Gln546Lys
XM_006721516.2:c.1885C>A	XP_006721579.2:p.Gln629Lys
XM_011523829.1:c.1783C>A	XP_011522131.1:p.Gln595Lys
XM_011523830.1:c.1762C>A	XP_011522132.1:p.Gln588Lys
XR_934021.1:n.1967C>A
XR_934022.1:n.1873C>A
XR_934023.1:n.1894C>A
XM_006721516.3:c.1885C>A	XP_006721579.2:p.Gln629Lys
XM_011523829.2:c.1783C>A	XP_011522131.1:p.Gln595Lys
XM_011523830.2:c.1762C>A	XP_011522132.1:p.Gln588Lys
XM_024450741.1:c.1852C>A	XP_024306509.1:p.Gln618Lys
XR_934021.2:n.1919C>A
XR_934022.2:n.1825C>A
XR_934023.2:n.1846C>A
NM_000018.4:c.1864C>A MANE Select	NP_000009.1:p.Gln622Lys
NM_001033859.3:c.1798C>A	NP_001029031.1:p.Gln600Lys
NM_001270447.2:c.1933C>A	NP_001257376.1:p.Gln645Lys
NM_001270448.2:c.1636C>A	NP_001257377.1:p.Gln546Lys