Canonical Allele Identifier: CA497694567

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128353A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225034A>G , CM000679.2:g.7225034A>G	GRCh38
NC_000017.10:g.7128353A>G , CM000679.1:g.7128353A>G	GRCh37
NC_000017.9:g.7069077A>G	NCBI36
NG_007975.1:g.10201A>G
NG_008391.2:g.17T>C
NG_033038.1:g.14511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1905A>G MANE Select	ENSP00000349297.5:p.Lys635=
ENST00000322910.9:c.*1860A>G	ENSP00000325395.5:n.*1860A>G
ENST00000350303.9:c.1839A>G	ENSP00000344152.5:p.Lys613=
ENST00000356839.9:c.1905A>G	ENSP00000349297.5:p.Lys635=
ENST00000542255.6:c.784A>G
ENST00000543245.6:c.1974A>G	ENSP00000438689.2:p.Lys658=
ENST00000578033.1:n.330A>G
ENST00000578319.5:n.486A>G
ENST00000578711.1:n.1530A>G
ENST00000578809.5:n.477A>G
ENST00000579425.5:n.1021A>G
ENST00000583848.5:c.271A>G	ENSP00000466487.1:n.271A>G
ENST00000583850.5:n.676A>G
ENST00000583858.5:c.836A>G
NM_000018.3:c.1905A>G	NP_000009.1:p.Lys635=
NM_001033859.2:c.1839A>G	NP_001029031.1:p.Lys613=
NM_001270447.1:c.1974A>G	NP_001257376.1:p.Lys658=
NM_001270448.1:c.1677A>G	NP_001257377.1:p.Lys559=
XM_006721516.2:c.1926A>G	XP_006721579.2:p.Lys642=
XM_011523829.1:c.1824A>G	XP_011522131.1:p.Lys608=
XM_011523830.1:c.1803A>G	XP_011522132.1:p.Lys601=
XR_934021.1:n.2008A>G
XR_934022.1:n.1914A>G
XR_934023.1:n.1935A>G
XM_006721516.3:c.1926A>G	XP_006721579.2:p.Lys642=
XM_011523829.2:c.1824A>G	XP_011522131.1:p.Lys608=
XM_011523830.2:c.1803A>G	XP_011522132.1:p.Lys601=
XM_024450741.1:c.1893A>G	XP_024306509.1:p.Lys631=
XR_934021.2:n.1960A>G
XR_934022.2:n.1866A>G
XR_934023.2:n.1887A>G
NM_000018.4:c.1905A>G MANE Select	NP_000009.1:p.Lys635=
NM_001033859.3:c.1839A>G	NP_001029031.1:p.Lys613=
NM_001270447.2:c.1974A>G	NP_001257376.1:p.Lys658=
NM_001270448.2:c.1677A>G	NP_001257377.1:p.Lys559=