Canonical Allele Identifier: CA287439291

Gene: ACADVL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223681G>C , CM000679.2:g.7223681G>C	GRCh38
NC_000017.10:g.7127000G>C , CM000679.1:g.7127000G>C	GRCh37
NC_000017.9:g.7067724G>C	NCBI36
NG_007975.1:g.8848G>C
NG_008391.2:g.1370C>G
NG_033038.1:g.15864C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1220G>C MANE Select	ENSP00000349297.5:p.Gly407Ala
ENST00000322910.9:c.*1175G>C	ENSP00000325395.5:n.*1175G>C
ENST00000350303.9:c.1154G>C	ENSP00000344152.5:p.Gly385Ala
ENST00000356839.9:c.1220G>C	ENSP00000349297.5:p.Gly407Ala
ENST00000542255.6:c.78G>C
ENST00000543245.6:c.1289G>C	ENSP00000438689.2:p.Gly430Ala
ENST00000578579.2:n.391G>C
ENST00000578711.1:n.177G>C
ENST00000578824.5:n.636G>C
ENST00000579425.5:n.244G>C
ENST00000579546.1:c.57G>C
ENST00000583858.5:c.249G>C
ENST00000585203.6:n.428G>C
NM_000018.3:c.1220G>C	NP_000009.1:p.Gly407Ala
NM_001033859.2:c.1154G>C	NP_001029031.1:p.Gly385Ala
NM_001270447.1:c.1289G>C	NP_001257376.1:p.Gly430Ala
NM_001270448.1:c.992G>C	NP_001257377.1:p.Gly331Ala
XM_006721516.2:c.1220G>C	XP_006721579.2:p.Gly407Ala
XM_011523829.1:c.1220G>C	XP_011522131.1:p.Gly407Ala
XM_011523830.1:c.1220G>C	XP_011522132.1:p.Gly407Ala
XR_934021.1:n.1327G>C
XR_934022.1:n.1327G>C
XR_934023.1:n.1327G>C
XM_006721516.3:c.1220G>C	XP_006721579.2:p.Gly407Ala
XM_011523829.2:c.1220G>C	XP_011522131.1:p.Gly407Ala
XM_011523830.2:c.1220G>C	XP_011522132.1:p.Gly407Ala
XM_024450741.1:c.1220G>C	XP_024306509.1:p.Gly407Ala
XR_934021.2:n.1279G>C
XR_934022.2:n.1279G>C
XR_934023.2:n.1279G>C
NM_000018.4:c.1220G>C MANE Select	NP_000009.1:p.Gly407Ala
NM_001033859.3:c.1154G>C	NP_001029031.1:p.Gly385Ala
NM_001270447.2:c.1289G>C	NP_001257376.1:p.Gly430Ala
NM_001270448.2:c.992G>C	NP_001257377.1:p.Gly331Ala