Canonical Allele Identifier: CA497693798

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124967C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221648C>T , CM000679.2:g.7221648C>T	GRCh38
NC_000017.10:g.7124967C>T , CM000679.1:g.7124967C>T	GRCh37
NC_000017.9:g.7065691C>T	NCBI36
NG_007975.1:g.6815C>T
NG_008391.2:g.3403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.588C>T MANE Select	ENSP00000349297.5:p.Ala196=
ENST00000322910.9:c.*543C>T	ENSP00000325395.5:n.*543C>T
ENST00000350303.9:c.522C>T	ENSP00000344152.5:p.Ala174=
ENST00000356839.9:c.588C>T	ENSP00000349297.5:p.Ala196=
ENST00000543245.6:c.657C>T	ENSP00000438689.2:p.Ala219=
ENST00000577191.5:n.665C>T
ENST00000577433.5:n.796C>T
ENST00000577857.5:n.404C>T
ENST00000579286.5:n.769C>T
ENST00000579886.2:c.426C>T	ENSP00000463246.1:p.Ala142=
ENST00000580365.1:n.319C>T
ENST00000581378.5:c.306C>T
ENST00000581562.5:n.525-304C>T
ENST00000583312.5:c.588C>T	ENSP00000467920.1:p.Ala196=
ENST00000583760.1:n.370C>T
NM_000018.3:c.588C>T	NP_000009.1:p.Ala196=
NM_001033859.2:c.522C>T	NP_001029031.1:p.Ala174=
NM_001270447.1:c.657C>T	NP_001257376.1:p.Ala219=
NM_001270448.1:c.360C>T	NP_001257377.1:p.Ala120=
XM_006721516.2:c.588C>T	XP_006721579.2:p.Ala196=
XM_011523829.1:c.588C>T	XP_011522131.1:p.Ala196=
XM_011523830.1:c.588C>T	XP_011522132.1:p.Ala196=
XR_934021.1:n.695C>T
XR_934022.1:n.695C>T
XR_934023.1:n.695C>T
XM_006721516.3:c.588C>T	XP_006721579.2:p.Ala196=
XM_011523829.2:c.588C>T	XP_011522131.1:p.Ala196=
XM_011523830.2:c.588C>T	XP_011522132.1:p.Ala196=
XM_024450741.1:c.588C>T	XP_024306509.1:p.Ala196=
XR_934021.2:n.647C>T
XR_934022.2:n.647C>T
XR_934023.2:n.647C>T
NM_000018.4:c.588C>T MANE Select	NP_000009.1:p.Ala196=
NM_001033859.3:c.522C>T	NP_001029031.1:p.Ala174=
NM_001270447.2:c.657C>T	NP_001257376.1:p.Ala219=
NM_001270448.2:c.360C>T	NP_001257377.1:p.Ala120=