Canonical Allele Identifier: CA397726215

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128385G>C (hg19) ; chr17:g.7225066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225066G>C , CM000679.2:g.7225066G>C	GRCh38
NC_000017.10:g.7128385G>C , CM000679.1:g.7128385G>C	GRCh37
NC_000017.9:g.7069109G>C	NCBI36
NG_007975.1:g.10233G>C
NG_033038.1:g.14479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1937G>C MANE Select	ENSP00000349297.5:p.Gly646Ala
ENST00000322910.9:c.*1892G>C	ENSP00000325395.5:n.*1892G>C
ENST00000350303.9:c.1871G>C	ENSP00000344152.5:p.Gly624Ala
ENST00000356839.9:c.1937G>C	ENSP00000349297.5:p.Gly646Ala
ENST00000542255.6:c.816G>C
ENST00000543245.6:c.2006G>C	ENSP00000438689.2:p.Gly669Ala
ENST00000578033.1:n.362G>C
ENST00000578319.5:n.518G>C
ENST00000578711.1:n.1562G>C
ENST00000578809.5:n.509G>C
ENST00000579425.5:n.1053G>C
ENST00000583848.5:c.303G>C	ENSP00000466487.1:n.303G>C
ENST00000583850.5:n.708G>C
ENST00000583858.5:c.868G>C
NM_000018.3:c.1937G>C	NP_000009.1:p.Gly646Ala
NM_001033859.2:c.1871G>C	NP_001029031.1:p.Gly624Ala
NM_001270447.1:c.2006G>C	NP_001257376.1:p.Gly669Ala
NM_001270448.1:c.1709G>C	NP_001257377.1:p.Gly570Ala
XM_006721516.2:c.1958G>C	XP_006721579.2:p.Gly653Ala
XM_011523829.1:c.1856G>C	XP_011522131.1:p.Gly619Ala
XM_011523830.1:c.1835G>C	XP_011522132.1:p.Gly612Ala
XR_934021.1:n.2040G>C
XR_934022.1:n.1946G>C
XR_934023.1:n.1967G>C
XM_006721516.3:c.1958G>C	XP_006721579.2:p.Gly653Ala
XM_011523829.2:c.1856G>C	XP_011522131.1:p.Gly619Ala
XM_011523830.2:c.1835G>C	XP_011522132.1:p.Gly612Ala
XM_024450741.1:c.1925G>C	XP_024306509.1:p.Gly642Ala
XR_934021.2:n.1992G>C
XR_934022.2:n.1898G>C
XR_934023.2:n.1919G>C
NM_000018.4:c.1937G>C MANE Select	NP_000009.1:p.Gly646Ala
NM_001033859.3:c.1871G>C	NP_001029031.1:p.Gly624Ala
NM_001270447.2:c.2006G>C	NP_001257376.1:p.Gly669Ala
NM_001270448.2:c.1709G>C	NP_001257377.1:p.Gly570Ala