Canonical Allele Identifier: CA397722951

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124363C>G (hg19) ; chr17:g.7221044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221044C>G , CM000679.2:g.7221044C>G	GRCh38
NC_000017.10:g.7124363C>G , CM000679.1:g.7124363C>G	GRCh37
NC_000017.9:g.7065087C>G	NCBI36
NG_007975.1:g.6211C>G
NG_008391.2:g.4007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.463C>G MANE Select	ENSP00000349297.5:p.Leu155Val
ENST00000322910.9:c.*418C>G	ENSP00000325395.5:n.*418C>G
ENST00000350303.9:c.397C>G	ENSP00000344152.5:p.Leu133Val
ENST00000356839.9:c.463C>G	ENSP00000349297.5:p.Leu155Val
ENST00000543245.6:c.532C>G	ENSP00000438689.2:p.Leu178Val
ENST00000577191.5:n.540C>G
ENST00000577433.5:n.671C>G
ENST00000577857.5:n.293+214C>G
ENST00000579286.5:n.644C>G
ENST00000579886.2:c.301C>G	ENSP00000463246.1:p.Leu101Val
ENST00000580365.1:n.194C>G
ENST00000581378.5:c.162C>G
ENST00000581562.5:n.510C>G
ENST00000582056.5:n.646C>G
ENST00000582166.1:n.444C>G
ENST00000583312.5:c.463C>G	ENSP00000467920.1:p.Leu155Val
NM_000018.3:c.463C>G	NP_000009.1:p.Leu155Val
NM_001033859.2:c.397C>G	NP_001029031.1:p.Leu133Val
NM_001270447.1:c.532C>G	NP_001257376.1:p.Leu178Val
NM_001270448.1:c.235C>G	NP_001257377.1:p.Leu79Val
XM_006721516.2:c.463C>G	XP_006721579.2:p.Leu155Val
XM_011523829.1:c.463C>G	XP_011522131.1:p.Leu155Val
XM_011523830.1:c.463C>G	XP_011522132.1:p.Leu155Val
XR_934021.1:n.570C>G
XR_934022.1:n.570C>G
XR_934023.1:n.570C>G
XM_006721516.3:c.463C>G	XP_006721579.2:p.Leu155Val
XM_011523829.2:c.463C>G	XP_011522131.1:p.Leu155Val
XM_011523830.2:c.463C>G	XP_011522132.1:p.Leu155Val
XM_024450741.1:c.463C>G	XP_024306509.1:p.Leu155Val
XR_934021.2:n.522C>G
XR_934022.2:n.522C>G
XR_934023.2:n.522C>G
NM_000018.4:c.463C>G MANE Select	NP_000009.1:p.Leu155Val
NM_001033859.3:c.397C>G	NP_001029031.1:p.Leu133Val
NM_001270447.2:c.532C>G	NP_001257376.1:p.Leu178Val
NM_001270448.2:c.235C>G	NP_001257377.1:p.Leu79Val