Canonical Allele Identifier: CA397725964

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128198A>G (hg19) ; chr17:g.7224879A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224879A>G , CM000679.2:g.7224879A>G	GRCh38
NC_000017.10:g.7128198A>G , CM000679.1:g.7128198A>G	GRCh37
NC_000017.9:g.7068922A>G	NCBI36
NG_007975.1:g.10046A>G
NG_008391.2:g.172T>C
NG_033038.1:g.14666T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1822A>G MANE Select	ENSP00000349297.5:p.Ile608Val
ENST00000322910.9:c.*1777A>G	ENSP00000325395.5:n.*1777A>G
ENST00000350303.9:c.1756A>G	ENSP00000344152.5:p.Ile586Val
ENST00000356839.9:c.1822A>G	ENSP00000349297.5:p.Ile608Val
ENST00000542255.6:c.701A>G
ENST00000543245.6:c.1891A>G	ENSP00000438689.2:p.Ile631Val
ENST00000578033.1:n.247A>G
ENST00000578319.5:n.403A>G
ENST00000578711.1:n.1375A>G
ENST00000578809.5:n.394A>G
ENST00000579425.5:n.938A>G
ENST00000579546.1:c.557A>G
ENST00000583848.5:c.188A>G	ENSP00000466487.1:n.188A>G
ENST00000583850.5:n.593A>G
ENST00000583858.5:c.753A>G
NM_000018.3:c.1822A>G	NP_000009.1:p.Ile608Val
NM_001033859.2:c.1756A>G	NP_001029031.1:p.Ile586Val
NM_001270447.1:c.1891A>G	NP_001257376.1:p.Ile631Val
NM_001270448.1:c.1594A>G	NP_001257377.1:p.Ile532Val
XM_006721516.2:c.1843A>G	XP_006721579.2:p.Ile615Val
XM_011523829.1:c.1741A>G	XP_011522131.1:p.Ile581Val
XM_011523830.1:c.1720A>G	XP_011522132.1:p.Ile574Val
XR_934021.1:n.1925A>G
XR_934022.1:n.1831A>G
XR_934023.1:n.1852A>G
XM_006721516.3:c.1843A>G	XP_006721579.2:p.Ile615Val
XM_011523829.2:c.1741A>G	XP_011522131.1:p.Ile581Val
XM_011523830.2:c.1720A>G	XP_011522132.1:p.Ile574Val
XM_024450741.1:c.1810A>G	XP_024306509.1:p.Ile604Val
XR_934021.2:n.1877A>G
XR_934022.2:n.1783A>G
XR_934023.2:n.1804A>G
NM_000018.4:c.1822A>G MANE Select	NP_000009.1:p.Ile608Val
NM_001033859.3:c.1756A>G	NP_001029031.1:p.Ile586Val
NM_001270447.2:c.1891A>G	NP_001257376.1:p.Ile631Val
NM_001270448.2:c.1594A>G	NP_001257377.1:p.Ile532Val