Canonical Allele Identifier: CA397723057

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124887C>G (hg19) ; chr17:g.7221568C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221568C>G , CM000679.2:g.7221568C>G	GRCh38
NC_000017.10:g.7124887C>G , CM000679.1:g.7124887C>G	GRCh37
NC_000017.9:g.7065611C>G	NCBI36
NG_007975.1:g.6735C>G
NG_008391.2:g.3483G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.508C>G MANE Select	ENSP00000349297.5:p.His170Asp
ENST00000322910.9:c.*463C>G	ENSP00000325395.5:n.*463C>G
ENST00000350303.9:c.442C>G	ENSP00000344152.5:p.His148Asp
ENST00000356839.9:c.508C>G	ENSP00000349297.5:p.His170Asp
ENST00000543245.6:c.577C>G	ENSP00000438689.2:p.His193Asp
ENST00000577191.5:n.585C>G
ENST00000577433.5:n.716C>G
ENST00000577857.5:n.324C>G
ENST00000579286.5:n.689C>G
ENST00000579886.2:c.346C>G	ENSP00000463246.1:p.His116Asp
ENST00000580365.1:n.239C>G
ENST00000581378.5:c.226C>G
ENST00000581562.5:n.525-384C>G
ENST00000582166.1:n.489C>G
ENST00000583312.5:c.508C>G	ENSP00000467920.1:p.His170Asp
ENST00000583760.1:n.290C>G
NM_000018.3:c.508C>G	NP_000009.1:p.His170Asp
NM_001033859.2:c.442C>G	NP_001029031.1:p.His148Asp
NM_001270447.1:c.577C>G	NP_001257376.1:p.His193Asp
NM_001270448.1:c.280C>G	NP_001257377.1:p.His94Asp
XM_006721516.2:c.508C>G	XP_006721579.2:p.His170Asp
XM_011523829.1:c.508C>G	XP_011522131.1:p.His170Asp
XM_011523830.1:c.508C>G	XP_011522132.1:p.His170Asp
XR_934021.1:n.615C>G
XR_934022.1:n.615C>G
XR_934023.1:n.615C>G
XM_006721516.3:c.508C>G	XP_006721579.2:p.His170Asp
XM_011523829.2:c.508C>G	XP_011522131.1:p.His170Asp
XM_011523830.2:c.508C>G	XP_011522132.1:p.His170Asp
XM_024450741.1:c.508C>G	XP_024306509.1:p.His170Asp
XR_934021.2:n.567C>G
XR_934022.2:n.567C>G
XR_934023.2:n.567C>G
NM_000018.4:c.508C>G MANE Select	NP_000009.1:p.His170Asp
NM_001033859.3:c.442C>G	NP_001029031.1:p.His148Asp
NM_001270447.2:c.577C>G	NP_001257376.1:p.His193Asp
NM_001270448.2:c.280C>G	NP_001257377.1:p.His94Asp