Canonical Allele Identifier: CA497693938

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124377G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221058G>A , CM000679.2:g.7221058G>A	GRCh38
NC_000017.10:g.7124377G>A , CM000679.1:g.7124377G>A	GRCh37
NC_000017.9:g.7065101G>A	NCBI36
NG_007975.1:g.6225G>A
NG_008391.2:g.3993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477G>A MANE Select	ENSP00000349297.5:p.Gln159=
ENST00000322910.9:c.*432G>A	ENSP00000325395.5:n.*432G>A
ENST00000350303.9:c.411G>A	ENSP00000344152.5:p.Gln137=
ENST00000356839.9:c.477G>A	ENSP00000349297.5:p.Gln159=
ENST00000543245.6:c.546G>A	ENSP00000438689.2:p.Gln182=
ENST00000577191.5:n.554G>A
ENST00000577433.5:n.685G>A
ENST00000577857.5:n.293+228G>A
ENST00000579286.5:n.658G>A
ENST00000579886.2:c.315G>A	ENSP00000463246.1:p.Gln105=
ENST00000580365.1:n.208G>A
ENST00000581378.5:c.176G>A
ENST00000581562.5:n.524G>A
ENST00000582056.5:n.660G>A
ENST00000582166.1:n.458G>A
ENST00000583312.5:c.477G>A	ENSP00000467920.1:p.Gln159=
NM_000018.3:c.477G>A	NP_000009.1:p.Gln159=
NM_001033859.2:c.411G>A	NP_001029031.1:p.Gln137=
NM_001270447.1:c.546G>A	NP_001257376.1:p.Gln182=
NM_001270448.1:c.249G>A	NP_001257377.1:p.Gln83=
XM_006721516.2:c.477G>A	XP_006721579.2:p.Gln159=
XM_011523829.1:c.477G>A	XP_011522131.1:p.Gln159=
XM_011523830.1:c.477G>A	XP_011522132.1:p.Gln159=
XR_934021.1:n.584G>A
XR_934022.1:n.584G>A
XR_934023.1:n.584G>A
XM_006721516.3:c.477G>A	XP_006721579.2:p.Gln159=
XM_011523829.2:c.477G>A	XP_011522131.1:p.Gln159=
XM_011523830.2:c.477G>A	XP_011522132.1:p.Gln159=
XM_024450741.1:c.477G>A	XP_024306509.1:p.Gln159=
XR_934021.2:n.536G>A
XR_934022.2:n.536G>A
XR_934023.2:n.536G>A
NM_000018.4:c.477G>A MANE Select	NP_000009.1:p.Gln159=
NM_001033859.3:c.411G>A	NP_001029031.1:p.Gln137=
NM_001270447.2:c.546G>A	NP_001257376.1:p.Gln182=
NM_001270448.2:c.249G>A	NP_001257377.1:p.Gln83=