Canonical Allele Identifier: CA8338064

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223856G>C , CM000679.2:g.7223856G>C	GRCh38
NC_000017.10:g.7127175G>C , CM000679.1:g.7127175G>C	GRCh37
NC_000017.9:g.7067899G>C	NCBI36
NG_007975.1:g.9023G>C
NG_008391.2:g.1195C>G
NG_033038.1:g.15689C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.4:c.1313G>C MANE Select	NP_000009.1:p.Gly438Ala
ENST00000356839.10:c.1313G>C MANE Select	ENSP00000349297.5:p.Gly438Ala
NM_000018.3:c.1313G>C	NP_000009.1:p.Gly438Ala
NM_001033859.2:c.1247G>C	NP_001029031.1:p.Gly416Ala
NM_001033859.3:c.1247G>C	NP_001029031.1:p.Gly416Ala
NM_001270447.1:c.1382G>C	NP_001257376.1:p.Gly461Ala
NM_001270447.2:c.1382G>C	NP_001257376.1:p.Gly461Ala
NM_001270448.1:c.1085G>C	NP_001257377.1:p.Gly362Ala
NM_001270448.2:c.1085G>C	NP_001257377.1:p.Gly362Ala
ENST00000322910.9:c.*1268G>C	ENSP00000325395.5:n.*1268G>C
ENST00000350303.9:c.1247G>C	ENSP00000344152.5:p.Gly416Ala
ENST00000356839.9:c.1313G>C	ENSP00000349297.5:p.Gly438Ala
ENST00000542255.6:c.171G>C
ENST00000543245.6:c.1382G>C	ENSP00000438689.2:p.Gly461Ala
ENST00000578711.1:n.352G>C
ENST00000579425.5:n.337G>C
ENST00000579546.1:c.150G>C
ENST00000583074.5:n.32G>C
ENST00000583850.5:n.88G>C
ENST00000583858.5:c.342G>C
ENST00000585203.6:n.521G>C
XM_006721516.2:c.1313G>C	XP_006721579.2:p.Gly438Ala
XM_006721516.3:c.1313G>C	XP_006721579.2:p.Gly438Ala
XM_011523829.1:c.1313G>C	XP_011522131.1:p.Gly438Ala
XM_011523829.2:c.1313G>C	XP_011522131.1:p.Gly438Ala
XM_011523830.1:c.1313G>C	XP_011522132.1:p.Gly438Ala
XM_011523830.2:c.1313G>C	XP_011522132.1:p.Gly438Ala
XM_024450741.1:c.1313G>C	XP_024306509.1:p.Gly438Ala
XR_934021.1:n.1420G>C
XR_934021.2:n.1372G>C
XR_934022.1:n.1420G>C
XR_934022.2:n.1372G>C
XR_934023.1:n.1420G>C
XR_934023.2:n.1372G>C