Canonical Allele Identifier: CA497694534

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224972-C-A
• MyVariant Identifiers: chr17:g.7128291C>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1843C>A MANE Select	ENSP00000349297.5:p.Arg615=
ENST00000322910.9:c.*1798C>A	ENSP00000325395.5:n.*1798C>A
ENST00000350303.9:c.1777C>A	ENSP00000344152.5:p.Arg593=
ENST00000356839.9:c.1843C>A	ENSP00000349297.5:p.Arg615=
ENST00000542255.6:c.722C>A
ENST00000543245.6:c.1912C>A	ENSP00000438689.2:p.Arg638=
ENST00000578033.1:n.268C>A
ENST00000578319.5:n.424C>A
ENST00000578711.1:n.1468C>A
ENST00000578809.5:n.415C>A
ENST00000579425.5:n.959C>A
ENST00000579546.1:c.578C>A
ENST00000583848.5:c.209C>A	ENSP00000466487.1:n.209C>A
ENST00000583850.5:n.614C>A
ENST00000583858.5:c.774C>A
NM_000018.3:c.1843C>A	NP_000009.1:p.Arg615=
NM_001033859.2:c.1777C>A	NP_001029031.1:p.Arg593=
NM_001270447.1:c.1912C>A	NP_001257376.1:p.Arg638=
NM_001270448.1:c.1615C>A	NP_001257377.1:p.Arg539=
XM_006721516.2:c.1864C>A	XP_006721579.2:p.Arg622=
XM_011523829.1:c.1762C>A	XP_011522131.1:p.Arg588=
XM_011523830.1:c.1741C>A	XP_011522132.1:p.Arg581=
XR_934021.1:n.1946C>A
XR_934022.1:n.1852C>A
XR_934023.1:n.1873C>A
XM_006721516.3:c.1864C>A	XP_006721579.2:p.Arg622=
XM_011523829.2:c.1762C>A	XP_011522131.1:p.Arg588=
XM_011523830.2:c.1741C>A	XP_011522132.1:p.Arg581=
XM_024450741.1:c.1831C>A	XP_024306509.1:p.Arg611=
XR_934021.2:n.1898C>A
XR_934022.2:n.1804C>A
XR_934023.2:n.1825C>A
NM_000018.4:c.1843C>A MANE Select	NP_000009.1:p.Arg615=
NM_001033859.3:c.1777C>A	NP_001029031.1:p.Arg593=
NM_001270447.2:c.1912C>A	NP_001257376.1:p.Arg638=
NM_001270448.2:c.1615C>A	NP_001257377.1:p.Arg539=