Canonical Allele Identifier: CA497694559

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128338C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225019C>A , CM000679.2:g.7225019C>A	GRCh38
NC_000017.10:g.7128338C>A , CM000679.1:g.7128338C>A	GRCh37
NC_000017.9:g.7069062C>A	NCBI36
NG_007975.1:g.10186C>A
NG_008391.2:g.32G>T
NG_033038.1:g.14526G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1890C>A MANE Select	ENSP00000349297.5:p.Leu630=
ENST00000322910.9:c.*1845C>A	ENSP00000325395.5:n.*1845C>A
ENST00000350303.9:c.1824C>A	ENSP00000344152.5:p.Leu608=
ENST00000356839.9:c.1890C>A	ENSP00000349297.5:p.Leu630=
ENST00000542255.6:c.769C>A
ENST00000543245.6:c.1959C>A	ENSP00000438689.2:p.Leu653=
ENST00000578033.1:n.315C>A
ENST00000578319.5:n.471C>A
ENST00000578711.1:n.1515C>A
ENST00000578809.5:n.462C>A
ENST00000579425.5:n.1006C>A
ENST00000583848.5:c.256C>A	ENSP00000466487.1:n.256C>A
ENST00000583850.5:n.661C>A
ENST00000583858.5:c.821C>A
NM_000018.3:c.1890C>A	NP_000009.1:p.Leu630=
NM_001033859.2:c.1824C>A	NP_001029031.1:p.Leu608=
NM_001270447.1:c.1959C>A	NP_001257376.1:p.Leu653=
NM_001270448.1:c.1662C>A	NP_001257377.1:p.Leu554=
XM_006721516.2:c.1911C>A	XP_006721579.2:p.Leu637=
XM_011523829.1:c.1809C>A	XP_011522131.1:p.Leu603=
XM_011523830.1:c.1788C>A	XP_011522132.1:p.Leu596=
XR_934021.1:n.1993C>A
XR_934022.1:n.1899C>A
XR_934023.1:n.1920C>A
XM_006721516.3:c.1911C>A	XP_006721579.2:p.Leu637=
XM_011523829.2:c.1809C>A	XP_011522131.1:p.Leu603=
XM_011523830.2:c.1788C>A	XP_011522132.1:p.Leu596=
XM_024450741.1:c.1878C>A	XP_024306509.1:p.Leu626=
XR_934021.2:n.1945C>A
XR_934022.2:n.1851C>A
XR_934023.2:n.1872C>A
NM_000018.4:c.1890C>A MANE Select	NP_000009.1:p.Leu630=
NM_001033859.3:c.1824C>A	NP_001029031.1:p.Leu608=
NM_001270447.2:c.1959C>A	NP_001257376.1:p.Leu653=
NM_001270448.2:c.1662C>A	NP_001257377.1:p.Leu554=