Canonical Allele Identifier: CA497694191

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127373T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224054T>G , CM000679.2:g.7224054T>G	GRCh38
NC_000017.10:g.7127373T>G , CM000679.1:g.7127373T>G	GRCh37
NC_000017.9:g.7068097T>G	NCBI36
NG_007975.1:g.9221T>G
NG_008391.2:g.997A>C
NG_033038.1:g.15491A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1419T>G MANE Select	ENSP00000349297.5:p.Ala473=
ENST00000322910.9:c.*1374T>G	ENSP00000325395.5:n.*1374T>G
ENST00000350303.9:c.1353T>G	ENSP00000344152.5:p.Ala451=
ENST00000356839.9:c.1419T>G	ENSP00000349297.5:p.Ala473=
ENST00000542255.6:c.277T>G
ENST00000543245.6:c.1488T>G	ENSP00000438689.2:p.Ala496=
ENST00000578711.1:n.550T>G
ENST00000579425.5:n.535T>G
ENST00000579546.1:c.256T>G
ENST00000579894.5:n.130T>G
ENST00000583074.5:n.138T>G
ENST00000583850.5:n.194T>G
ENST00000583858.5:c.448T>G
ENST00000585203.6:n.610T>G
NM_000018.3:c.1419T>G	NP_000009.1:p.Ala473=
NM_001033859.2:c.1353T>G	NP_001029031.1:p.Ala451=
NM_001270447.1:c.1488T>G	NP_001257376.1:p.Ala496=
NM_001270448.1:c.1191T>G	NP_001257377.1:p.Ala397=
XM_006721516.2:c.1419T>G	XP_006721579.2:p.Ala473=
XM_011523829.1:c.1419T>G	XP_011522131.1:p.Ala473=
XM_011523830.1:c.1419T>G	XP_011522132.1:p.Ala473=
XR_934021.1:n.1526T>G
XR_934022.1:n.1526T>G
XR_934023.1:n.1526T>G
XM_006721516.3:c.1419T>G	XP_006721579.2:p.Ala473=
XM_011523829.2:c.1419T>G	XP_011522131.1:p.Ala473=
XM_011523830.2:c.1419T>G	XP_011522132.1:p.Ala473=
XM_024450741.1:c.1419T>G	XP_024306509.1:p.Ala473=
XR_934021.2:n.1478T>G
XR_934022.2:n.1478T>G
XR_934023.2:n.1478T>G
NM_000018.4:c.1419T>G MANE Select	NP_000009.1:p.Ala473=
NM_001033859.3:c.1353T>G	NP_001029031.1:p.Ala451=
NM_001270447.2:c.1488T>G	NP_001257376.1:p.Ala496=
NM_001270448.2:c.1191T>G	NP_001257377.1:p.Ala397=