Canonical Allele Identifier: CA397726210

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128382G>C (hg19) ; chr17:g.7225063G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225063G>C , CM000679.2:g.7225063G>C	GRCh38
NC_000017.10:g.7128382G>C , CM000679.1:g.7128382G>C	GRCh37
NC_000017.9:g.7069106G>C	NCBI36
NG_007975.1:g.10230G>C
NG_033038.1:g.14482C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1934G>C MANE Select	ENSP00000349297.5:p.Gly645Ala
ENST00000322910.9:c.*1889G>C	ENSP00000325395.5:n.*1889G>C
ENST00000350303.9:c.1868G>C	ENSP00000344152.5:p.Gly623Ala
ENST00000356839.9:c.1934G>C	ENSP00000349297.5:p.Gly645Ala
ENST00000542255.6:c.813G>C
ENST00000543245.6:c.2003G>C	ENSP00000438689.2:p.Gly668Ala
ENST00000578033.1:n.359G>C
ENST00000578319.5:n.515G>C
ENST00000578711.1:n.1559G>C
ENST00000578809.5:n.506G>C
ENST00000579425.5:n.1050G>C
ENST00000583848.5:c.300G>C	ENSP00000466487.1:n.300G>C
ENST00000583850.5:n.705G>C
ENST00000583858.5:c.865G>C
NM_000018.3:c.1934G>C	NP_000009.1:p.Gly645Ala
NM_001033859.2:c.1868G>C	NP_001029031.1:p.Gly623Ala
NM_001270447.1:c.2003G>C	NP_001257376.1:p.Gly668Ala
NM_001270448.1:c.1706G>C	NP_001257377.1:p.Gly569Ala
XM_006721516.2:c.1955G>C	XP_006721579.2:p.Gly652Ala
XM_011523829.1:c.1853G>C	XP_011522131.1:p.Gly618Ala
XM_011523830.1:c.1832G>C	XP_011522132.1:p.Gly611Ala
XR_934021.1:n.2037G>C
XR_934022.1:n.1943G>C
XR_934023.1:n.1964G>C
XM_006721516.3:c.1955G>C	XP_006721579.2:p.Gly652Ala
XM_011523829.2:c.1853G>C	XP_011522131.1:p.Gly618Ala
XM_011523830.2:c.1832G>C	XP_011522132.1:p.Gly611Ala
XM_024450741.1:c.1922G>C	XP_024306509.1:p.Gly641Ala
XR_934021.2:n.1989G>C
XR_934022.2:n.1895G>C
XR_934023.2:n.1916G>C
NM_000018.4:c.1934G>C MANE Select	NP_000009.1:p.Gly645Ala
NM_001033859.3:c.1868G>C	NP_001029031.1:p.Gly623Ala
NM_001270447.2:c.2003G>C	NP_001257376.1:p.Gly668Ala
NM_001270448.2:c.1706G>C	NP_001257377.1:p.Gly569Ala