Canonical Allele Identifier: CA397722862

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124316T>A (hg19) ; chr17:g.7220997T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220997T>A , CM000679.2:g.7220997T>A	GRCh38
NC_000017.10:g.7124316T>A , CM000679.1:g.7124316T>A	GRCh37
NC_000017.9:g.7065040T>A	NCBI36
NG_007975.1:g.6164T>A
NG_008391.2:g.4054A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.416T>A MANE Select	ENSP00000349297.5:p.Leu139Gln
ENST00000322910.9:c.*371T>A	ENSP00000325395.5:n.*371T>A
ENST00000350303.9:c.350T>A	ENSP00000344152.5:p.Leu117Gln
ENST00000356839.9:c.416T>A	ENSP00000349297.5:p.Leu139Gln
ENST00000543245.6:c.485T>A	ENSP00000438689.2:p.Leu162Gln
ENST00000577191.5:n.493T>A
ENST00000577433.5:n.624T>A
ENST00000577857.5:n.293+167T>A
ENST00000579286.5:n.597T>A
ENST00000579886.2:c.254T>A	ENSP00000463246.1:p.Leu85Gln
ENST00000580365.1:n.147T>A
ENST00000581378.5:c.115T>A
ENST00000581562.5:n.463T>A
ENST00000582056.5:n.599T>A
ENST00000582166.1:n.397T>A
ENST00000583312.5:c.416T>A	ENSP00000467920.1:p.Leu139Gln
ENST00000584103.5:c.449T>A	ENSP00000465353.1:p.Leu150Gln
NM_000018.3:c.416T>A	NP_000009.1:p.Leu139Gln
NM_001033859.2:c.350T>A	NP_001029031.1:p.Leu117Gln
NM_001270447.1:c.485T>A	NP_001257376.1:p.Leu162Gln
NM_001270448.1:c.188T>A	NP_001257377.1:p.Leu63Gln
XM_006721516.2:c.416T>A	XP_006721579.2:p.Leu139Gln
XM_011523829.1:c.416T>A	XP_011522131.1:p.Leu139Gln
XM_011523830.1:c.416T>A	XP_011522132.1:p.Leu139Gln
XR_934021.1:n.523T>A
XR_934022.1:n.523T>A
XR_934023.1:n.523T>A
XM_006721516.3:c.416T>A	XP_006721579.2:p.Leu139Gln
XM_011523829.2:c.416T>A	XP_011522131.1:p.Leu139Gln
XM_011523830.2:c.416T>A	XP_011522132.1:p.Leu139Gln
XM_024450741.1:c.416T>A	XP_024306509.1:p.Leu139Gln
XR_934021.2:n.475T>A
XR_934022.2:n.475T>A
XR_934023.2:n.475T>A
NM_000018.4:c.416T>A MANE Select	NP_000009.1:p.Leu139Gln
NM_001033859.3:c.350T>A	NP_001029031.1:p.Leu117Gln
NM_001270447.2:c.485T>A	NP_001257376.1:p.Leu162Gln
NM_001270448.2:c.188T>A	NP_001257377.1:p.Leu63Gln