Canonical Allele Identifier: CA397724898

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127285A>G (hg19) ; chr17:g.7223966A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223966A>G , CM000679.2:g.7223966A>G	GRCh38
NC_000017.10:g.7127285A>G , CM000679.1:g.7127285A>G	GRCh37
NC_000017.9:g.7068009A>G	NCBI36
NG_007975.1:g.9133A>G
NG_008391.2:g.1085T>C
NG_033038.1:g.15579T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1333-2A>G MANE Select	ENSP00000349297.5:n.1333-2A>G
ENST00000322910.9:c.*1288-2A>G	ENSP00000325395.5:n.*1288-2A>G
ENST00000350303.9:c.1267-2A>G	ENSP00000344152.5:n.1267-2A>G
ENST00000356839.9:c.1333-2A>G	ENSP00000349297.5:n.1333-2A>G
ENST00000542255.6:c.191-2A>G
ENST00000543245.6:c.1402-2A>G	ENSP00000438689.2:n.1402-2A>G
ENST00000578711.1:n.462A>G
ENST00000579425.5:n.447A>G
ENST00000579546.1:c.170-2A>G
ENST00000579894.5:n.42A>G
ENST00000583074.5:n.52-2A>G
ENST00000583850.5:n.108-2A>G
ENST00000583858.5:c.362-2A>G
ENST00000585203.6:n.524-2A>G
NM_000018.3:c.1333-2A>G	NP_000009.1:n.1333-2A>G
NM_001033859.2:c.1267-2A>G	NP_001029031.1:n.1267-2A>G
NM_001270447.1:c.1402-2A>G	NP_001257376.1:n.1402-2A>G
NM_001270448.1:c.1105-2A>G	NP_001257377.1:n.1105-2A>G
XM_006721516.2:c.1333-2A>G	XP_006721579.2:n.1333-2A>G
XM_011523829.1:c.1333-2A>G	XP_011522131.1:n.1333-2A>G
XM_011523830.1:c.1333-2A>G	XP_011522132.1:n.1333-2A>G
XR_934021.1:n.1440-2A>G
XR_934022.1:n.1440-2A>G
XR_934023.1:n.1440-2A>G
XM_006721516.3:c.1333-2A>G	XP_006721579.2:n.1333-2A>G
XM_011523829.2:c.1333-2A>G	XP_011522131.1:n.1333-2A>G
XM_011523830.2:c.1333-2A>G	XP_011522132.1:n.1333-2A>G
XM_024450741.1:c.1333-2A>G	XP_024306509.1:n.1333-2A>G
XR_934021.2:n.1392-2A>G
XR_934022.2:n.1392-2A>G
XR_934023.2:n.1392-2A>G
NM_000018.4:c.1333-2A>G MANE Select	NP_000009.1:n.1333-2A>G
NM_001033859.3:c.1267-2A>G	NP_001029031.1:n.1267-2A>G
NM_001270447.2:c.1402-2A>G	NP_001257376.1:n.1402-2A>G
NM_001270448.2:c.1105-2A>G	NP_001257377.1:n.1105-2A>G