Canonical Allele Identifier: CA397726014

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224972C>G , CM000679.2:g.7224972C>G	GRCh38
NC_000017.10:g.7128291C>G , CM000679.1:g.7128291C>G	GRCh37
NC_000017.9:g.7069015C>G	NCBI36
NG_007975.1:g.10139C>G
NG_008391.2:g.79G>C
NG_033038.1:g.14573G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1843C>G MANE Select	NP_000009.1:p.Arg615Gly
ENST00000356839.10:c.1843C>G MANE Select	ENSP00000349297.5:p.Arg615Gly
NM_000018.3:c.1843C>G	NP_000009.1:p.Arg615Gly
NM_001033859.2:c.1777C>G	NP_001029031.1:p.Arg593Gly
NM_001033859.3:c.1777C>G	NP_001029031.1:p.Arg593Gly
NM_001270447.1:c.1912C>G	NP_001257376.1:p.Arg638Gly
NM_001270447.2:c.1912C>G	NP_001257376.1:p.Arg638Gly
NM_001270448.1:c.1615C>G	NP_001257377.1:p.Arg539Gly
NM_001270448.2:c.1615C>G	NP_001257377.1:p.Arg539Gly
ENST00000322910.9:c.*1798C>G	ENSP00000325395.5:n.*1798C>G
ENST00000350303.9:c.1777C>G	ENSP00000344152.5:p.Arg593Gly
ENST00000356839.9:c.1843C>G	ENSP00000349297.5:p.Arg615Gly
ENST00000542255.6:c.722C>G
ENST00000543245.6:c.1912C>G	ENSP00000438689.2:p.Arg638Gly
ENST00000578033.1:n.268C>G
ENST00000578319.5:n.424C>G
ENST00000578711.1:n.1468C>G
ENST00000578809.5:n.415C>G
ENST00000579425.5:n.959C>G
ENST00000579546.1:c.578C>G
ENST00000583848.5:c.209C>G	ENSP00000466487.1:n.209C>G
ENST00000583850.5:n.614C>G
ENST00000583858.5:c.774C>G
XM_006721516.2:c.1864C>G	XP_006721579.2:p.Arg622Gly
XM_006721516.3:c.1864C>G	XP_006721579.2:p.Arg622Gly
XM_011523829.1:c.1762C>G	XP_011522131.1:p.Arg588Gly
XM_011523829.2:c.1762C>G	XP_011522131.1:p.Arg588Gly
XM_011523830.1:c.1741C>G	XP_011522132.1:p.Arg581Gly
XM_011523830.2:c.1741C>G	XP_011522132.1:p.Arg581Gly
XM_024450741.1:c.1831C>G	XP_024306509.1:p.Arg611Gly
XR_934021.1:n.1946C>G
XR_934021.2:n.1898C>G
XR_934022.1:n.1852C>G
XR_934022.2:n.1804C>G
XR_934023.1:n.1873C>G
XR_934023.2:n.1825C>G