Canonical Allele Identifier: CA397725407

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127683C>G (hg19) ; chr17:g.7224364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224364C>G , CM000679.2:g.7224364C>G	GRCh38
NC_000017.10:g.7127683C>G , CM000679.1:g.7127683C>G	GRCh37
NC_000017.9:g.7068407C>G	NCBI36
NG_007975.1:g.9531C>G
NG_008391.2:g.687G>C
NG_033038.1:g.15181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1576C>G MANE Select	ENSP00000349297.5:p.His526Asp
ENST00000322910.9:c.*1531C>G	ENSP00000325395.5:n.*1531C>G
ENST00000350303.9:c.1510C>G	ENSP00000344152.5:p.His504Asp
ENST00000356839.9:c.1576C>G	ENSP00000349297.5:p.His526Asp
ENST00000542255.6:c.434C>G
ENST00000543245.6:c.1645C>G	ENSP00000438689.2:p.His549Asp
ENST00000578319.5:n.71C>G
ENST00000578711.1:n.860C>G
ENST00000578809.5:n.148C>G
ENST00000579391.1:n.184C>G
ENST00000579425.5:n.692C>G
ENST00000579546.1:c.315C>G
ENST00000579894.5:n.363C>G
ENST00000582450.1:n.84C>G
ENST00000583074.5:n.197C>G
ENST00000583850.5:n.351C>G
ENST00000583858.5:c.507C>G
ENST00000585203.6:n.767C>G
NM_000018.3:c.1576C>G	NP_000009.1:p.His526Asp
NM_001033859.2:c.1510C>G	NP_001029031.1:p.His504Asp
NM_001270447.1:c.1645C>G	NP_001257376.1:p.His549Asp
NM_001270448.1:c.1348C>G	NP_001257377.1:p.His450Asp
XM_006721516.2:c.1576C>G	XP_006721579.2:p.His526Asp
XM_011523829.1:c.1478C>G	XP_011522131.1:p.Pro493Arg
XM_011523830.1:c.1478C>G	XP_011522132.1:p.Pro493Arg
XR_934021.1:n.1683C>G
XR_934022.1:n.1585C>G
XR_934023.1:n.1585C>G
XM_006721516.3:c.1576C>G	XP_006721579.2:p.His526Asp
XM_011523829.2:c.1478C>G	XP_011522131.1:p.Pro493Arg
XM_011523830.2:c.1478C>G	XP_011522132.1:p.Pro493Arg
XM_024450741.1:c.1478C>G	XP_024306509.1:p.Pro493Arg
XR_934021.2:n.1635C>G
XR_934022.2:n.1537C>G
XR_934023.2:n.1537C>G
NM_000018.4:c.1576C>G MANE Select	NP_000009.1:p.His526Asp
NM_001033859.3:c.1510C>G	NP_001029031.1:p.His504Asp
NM_001270447.2:c.1645C>G	NP_001257376.1:p.His549Asp
NM_001270448.2:c.1348C>G	NP_001257377.1:p.His450Asp