Canonical Allele Identifier: CA397725457

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127707G>C (hg19) ; chr17:g.7224388G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224388G>C , CM000679.2:g.7224388G>C	GRCh38
NC_000017.10:g.7127707G>C , CM000679.1:g.7127707G>C	GRCh37
NC_000017.9:g.7068431G>C	NCBI36
NG_007975.1:g.9555G>C
NG_008391.2:g.663C>G
NG_033038.1:g.15157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1600G>C MANE Select	ENSP00000349297.5:p.Glu534Gln
ENST00000322910.9:c.*1555G>C	ENSP00000325395.5:n.*1555G>C
ENST00000350303.9:c.1534G>C	ENSP00000344152.5:p.Glu512Gln
ENST00000356839.9:c.1600G>C	ENSP00000349297.5:p.Glu534Gln
ENST00000542255.6:c.458G>C
ENST00000543245.6:c.1669G>C	ENSP00000438689.2:p.Glu557Gln
ENST00000578319.5:n.95G>C
ENST00000578711.1:n.884G>C
ENST00000578809.5:n.172G>C
ENST00000579391.1:n.208G>C
ENST00000579425.5:n.716G>C
ENST00000579546.1:c.339G>C
ENST00000579894.5:n.387G>C
ENST00000582450.1:n.108G>C
ENST00000583074.5:n.221G>C
ENST00000583850.5:n.375G>C
ENST00000583858.5:c.531G>C
ENST00000585203.6:n.791G>C
NM_000018.3:c.1600G>C	NP_000009.1:p.Glu534Gln
NM_001033859.2:c.1534G>C	NP_001029031.1:p.Glu512Gln
NM_001270447.1:c.1669G>C	NP_001257376.1:p.Glu557Gln
NM_001270448.1:c.1372G>C	NP_001257377.1:p.Glu458Gln
XM_006721516.2:c.1600G>C	XP_006721579.2:p.Glu534Gln
XM_011523829.1:c.1502G>C	XP_011522131.1:p.Arg501Pro
XM_011523830.1:c.1502G>C	XP_011522132.1:p.Arg501Pro
XR_934021.1:n.1707G>C
XR_934022.1:n.1609G>C
XR_934023.1:n.1609G>C
XM_006721516.3:c.1600G>C	XP_006721579.2:p.Glu534Gln
XM_011523829.2:c.1502G>C	XP_011522131.1:p.Arg501Pro
XM_011523830.2:c.1502G>C	XP_011522132.1:p.Arg501Pro
XM_024450741.1:c.1502G>C	XP_024306509.1:p.Arg501Pro
XR_934021.2:n.1659G>C
XR_934022.2:n.1561G>C
XR_934023.2:n.1561G>C
NM_000018.4:c.1600G>C MANE Select	NP_000009.1:p.Glu534Gln
NM_001033859.3:c.1534G>C	NP_001029031.1:p.Glu512Gln
NM_001270447.2:c.1669G>C	NP_001257376.1:p.Glu557Gln
NM_001270448.2:c.1372G>C	NP_001257377.1:p.Glu458Gln