Canonical Allele Identifier: CA397725148

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127477G>C (hg19) ; chr17:g.7224158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224158G>C , CM000679.2:g.7224158G>C	GRCh38
NC_000017.10:g.7127477G>C , CM000679.1:g.7127477G>C	GRCh37
NC_000017.9:g.7068201G>C	NCBI36
NG_007975.1:g.9325G>C
NG_008391.2:g.893C>G
NG_033038.1:g.15387C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1447G>C MANE Select	ENSP00000349297.5:p.Glu483Gln
ENST00000322910.9:c.*1402G>C	ENSP00000325395.5:n.*1402G>C
ENST00000350303.9:c.1381G>C	ENSP00000344152.5:p.Glu461Gln
ENST00000356839.9:c.1447G>C	ENSP00000349297.5:p.Glu483Gln
ENST00000542255.6:c.305G>C
ENST00000543245.6:c.1516G>C	ENSP00000438689.2:p.Glu506Gln
ENST00000578711.1:n.654G>C
ENST00000579391.1:n.55G>C
ENST00000579425.5:n.563G>C
ENST00000579546.1:c.271+89G>C
ENST00000579894.5:n.234G>C
ENST00000583074.5:n.153+89G>C
ENST00000583850.5:n.222G>C
ENST00000583858.5:c.463+89G>C
ENST00000585203.6:n.638G>C
NM_000018.3:c.1447G>C	NP_000009.1:p.Glu483Gln
NM_001033859.2:c.1381G>C	NP_001029031.1:p.Glu461Gln
NM_001270447.1:c.1516G>C	NP_001257376.1:p.Glu506Gln
NM_001270448.1:c.1219G>C	NP_001257377.1:p.Glu407Gln
XM_006721516.2:c.1447G>C	XP_006721579.2:p.Glu483Gln
XM_011523829.1:c.1434+89G>C	XP_011522131.1:n.1434+89G>C
XM_011523830.1:c.1434+89G>C	XP_011522132.1:n.1434+89G>C
XR_934021.1:n.1554G>C
XR_934022.1:n.1541+89G>C
XR_934023.1:n.1541+89G>C
XM_006721516.3:c.1447G>C	XP_006721579.2:p.Glu483Gln
XM_011523829.2:c.1434+89G>C	XP_011522131.1:n.1434+89G>C
XM_011523830.2:c.1434+89G>C	XP_011522132.1:n.1434+89G>C
XM_024450741.1:c.1434+89G>C	XP_024306509.1:n.1434+89G>C
XR_934021.2:n.1506G>C
XR_934022.2:n.1493+89G>C
XR_934023.2:n.1493+89G>C
NM_000018.4:c.1447G>C MANE Select	NP_000009.1:p.Glu483Gln
NM_001033859.3:c.1381G>C	NP_001029031.1:p.Glu461Gln
NM_001270447.2:c.1516G>C	NP_001257376.1:p.Glu506Gln
NM_001270448.2:c.1219G>C	NP_001257377.1:p.Glu407Gln