Canonical Allele Identifier: CA2573154577

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1617631
• ClinVar RCV Id: RCV002079391
• dbSNP Id: rs2142984921

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223804T>G , CM000679.2:g.7223804T>G	GRCh38
NC_000017.10:g.7127123T>G , CM000679.1:g.7127123T>G	GRCh37
NC_000017.9:g.7067847T>G	NCBI36
NG_007975.1:g.8971T>G
NG_008391.2:g.1247A>C
NG_033038.1:g.15741A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1270-9T>G MANE Select	ENSP00000349297.5:n.1270-9T>G
ENST00000322910.9:c.*1225-9T>G	ENSP00000325395.5:n.*1225-9T>G
ENST00000350303.9:c.1204-9T>G	ENSP00000344152.5:n.1204-9T>G
ENST00000356839.9:c.1270-9T>G	ENSP00000349297.5:n.1270-9T>G
ENST00000542255.6:c.128-9T>G
ENST00000543245.6:c.1339-9T>G	ENSP00000438689.2:n.1339-9T>G
ENST00000578579.2:n.441-9T>G
ENST00000578711.1:n.300T>G
ENST00000578824.5:n.686-9T>G
ENST00000579425.5:n.294-9T>G
ENST00000579546.1:c.107-9T>G
ENST00000583850.5:n.45-9T>G
ENST00000583858.5:c.299-9T>G
ENST00000585203.6:n.478-9T>G
NM_000018.3:c.1270-9T>G	NP_000009.1:n.1270-9T>G
NM_001033859.2:c.1204-9T>G	NP_001029031.1:n.1204-9T>G
NM_001270447.1:c.1339-9T>G	NP_001257376.1:n.1339-9T>G
NM_001270448.1:c.1042-9T>G	NP_001257377.1:n.1042-9T>G
XM_006721516.2:c.1270-9T>G	XP_006721579.2:n.1270-9T>G
XM_011523829.1:c.1270-9T>G	XP_011522131.1:n.1270-9T>G
XM_011523830.1:c.1270-9T>G	XP_011522132.1:n.1270-9T>G
XR_934021.1:n.1377-9T>G
XR_934022.1:n.1377-9T>G
XR_934023.1:n.1377-9T>G
XM_006721516.3:c.1270-9T>G	XP_006721579.2:n.1270-9T>G
XM_011523829.2:c.1270-9T>G	XP_011522131.1:n.1270-9T>G
XM_011523830.2:c.1270-9T>G	XP_011522132.1:n.1270-9T>G
XM_024450741.1:c.1270-9T>G	XP_024306509.1:n.1270-9T>G
XR_934021.2:n.1329-9T>G
XR_934022.2:n.1329-9T>G
XR_934023.2:n.1329-9T>G
NM_000018.4:c.1270-9T>G MANE Select	NP_000009.1:n.1270-9T>G
NM_001033859.3:c.1204-9T>G	NP_001029031.1:n.1204-9T>G
NM_001270447.2:c.1339-9T>G	NP_001257376.1:n.1339-9T>G
NM_001270448.2:c.1042-9T>G	NP_001257377.1:n.1042-9T>G