Canonical Allele Identifier: CA2740090950

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 3007085
• ClinVar RCV Id: RCV003868724

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224566A>G , CM000679.2:g.7224566A>G	GRCh38
NC_000017.10:g.7127885A>G , CM000679.1:g.7127885A>G	GRCh37
NC_000017.9:g.7068609A>G	NCBI36
NG_007975.1:g.9733A>G
NG_008391.2:g.485T>C
NG_033038.1:g.14979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+14A>G MANE Select	ENSP00000349297.5:n.1678+14A>G
ENST00000322910.9:c.*1633+14A>G	ENSP00000325395.5:n.*1633+14A>G
ENST00000350303.9:c.1612+14A>G	ENSP00000344152.5:n.1612+14A>G
ENST00000356839.9:c.1678+14A>G	ENSP00000349297.5:n.1678+14A>G
ENST00000542255.6:c.536+14A>G
ENST00000543245.6:c.1747+14A>G	ENSP00000438689.2:n.1747+14A>G
ENST00000578319.5:n.259+14A>G
ENST00000578711.1:n.1062A>G
ENST00000578809.5:n.250+14A>G
ENST00000579391.1:n.296A>G
ENST00000579425.5:n.794+14A>G
ENST00000579546.1:c.413+14A>G
ENST00000582450.1:n.200A>G
ENST00000583074.5:n.299+14A>G
ENST00000583848.5:c.64+14A>G	ENSP00000466487.1:n.64+14A>G
ENST00000583850.5:n.449+14A>G
ENST00000583858.5:c.609+14A>G
ENST00000585203.6:n.869+14A>G
NM_000018.3:c.1678+14A>G	NP_000009.1:n.1678+14A>G
NM_001033859.2:c.1612+14A>G	NP_001029031.1:n.1612+14A>G
NM_001270447.1:c.1747+14A>G	NP_001257376.1:n.1747+14A>G
NM_001270448.1:c.1450+14A>G	NP_001257377.1:n.1450+14A>G
XM_006721516.2:c.1678+14A>G	XP_006721579.2:n.1678+14A>G
XM_011523829.1:c.1576+14A>G	XP_011522131.1:n.1576+14A>G
XM_011523830.1:c.1576+14A>G	XP_011522132.1:n.1576+14A>G
XR_934021.1:n.1781+14A>G
XR_934022.1:n.1687+14A>G
XR_934023.1:n.1687+14A>G
XM_006721516.3:c.1678+14A>G	XP_006721579.2:n.1678+14A>G
XM_011523829.2:c.1576+14A>G	XP_011522131.1:n.1576+14A>G
XM_011523830.2:c.1576+14A>G	XP_011522132.1:n.1576+14A>G
XM_024450741.1:c.1666+14A>G	XP_024306509.1:n.1666+14A>G
XR_934021.2:n.1733+14A>G
XR_934022.2:n.1639+14A>G
XR_934023.2:n.1639+14A>G
NM_000018.4:c.1678+14A>G MANE Select	NP_000009.1:n.1678+14A>G
NM_001033859.3:c.1612+14A>G	NP_001029031.1:n.1612+14A>G
NM_001270447.2:c.1747+14A>G	NP_001257376.1:n.1747+14A>G
NM_001270448.2:c.1450+14A>G	NP_001257377.1:n.1450+14A>G