Canonical Allele Identifier: CA497694066

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127295A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223976A>C , CM000679.2:g.7223976A>C	GRCh38
NC_000017.10:g.7127295A>C , CM000679.1:g.7127295A>C	GRCh37
NC_000017.9:g.7068019A>C	NCBI36
NG_007975.1:g.9143A>C
NG_008391.2:g.1075T>G
NG_033038.1:g.15569T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1341A>C MANE Select	ENSP00000349297.5:p.Gly447=
ENST00000322910.9:c.*1296A>C	ENSP00000325395.5:n.*1296A>C
ENST00000350303.9:c.1275A>C	ENSP00000344152.5:p.Gly425=
ENST00000356839.9:c.1341A>C	ENSP00000349297.5:p.Gly447=
ENST00000542255.6:c.199A>C
ENST00000543245.6:c.1410A>C	ENSP00000438689.2:p.Gly470=
ENST00000578711.1:n.472A>C
ENST00000579425.5:n.457A>C
ENST00000579546.1:c.178A>C
ENST00000579894.5:n.52A>C
ENST00000583074.5:n.60A>C
ENST00000583850.5:n.116A>C
ENST00000583858.5:c.370A>C
ENST00000585203.6:n.532A>C
NM_000018.3:c.1341A>C	NP_000009.1:p.Gly447=
NM_001033859.2:c.1275A>C	NP_001029031.1:p.Gly425=
NM_001270447.1:c.1410A>C	NP_001257376.1:p.Gly470=
NM_001270448.1:c.1113A>C	NP_001257377.1:p.Gly371=
XM_006721516.2:c.1341A>C	XP_006721579.2:p.Gly447=
XM_011523829.1:c.1341A>C	XP_011522131.1:p.Gly447=
XM_011523830.1:c.1341A>C	XP_011522132.1:p.Gly447=
XR_934021.1:n.1448A>C
XR_934022.1:n.1448A>C
XR_934023.1:n.1448A>C
XM_006721516.3:c.1341A>C	XP_006721579.2:p.Gly447=
XM_011523829.2:c.1341A>C	XP_011522131.1:p.Gly447=
XM_011523830.2:c.1341A>C	XP_011522132.1:p.Gly447=
XM_024450741.1:c.1341A>C	XP_024306509.1:p.Gly447=
XR_934021.2:n.1400A>C
XR_934022.2:n.1400A>C
XR_934023.2:n.1400A>C
NM_000018.4:c.1341A>C MANE Select	NP_000009.1:p.Gly447=
NM_001033859.3:c.1275A>C	NP_001029031.1:p.Gly425=
NM_001270447.2:c.1410A>C	NP_001257376.1:p.Gly470=
NM_001270448.2:c.1113A>C	NP_001257377.1:p.Gly371=