Canonical Allele Identifier: CA2635787384

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225126-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225126A>G , CM000679.2:g.7225126A>G	GRCh38
NC_000017.10:g.7128445A>G , CM000679.1:g.7128445A>G	GRCh37
NC_000017.9:g.7069169A>G	NCBI36
NG_007975.1:g.10293A>G
NG_033038.1:g.14419T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*29A>G MANE Select	ENSP00000349297.5:n.*29A>G
ENST00000322910.9:c.*1952A>G	ENSP00000325395.5:n.*1952A>G
ENST00000350303.9:c.*29A>G	ENSP00000344152.5:n.*29A>G
ENST00000356839.9:c.*29A>G	ENSP00000349297.5:n.*29A>G
ENST00000542255.6:c.876A>G
ENST00000543245.6:c.*29A>G	ENSP00000438689.2:n.*29A>G
ENST00000578033.1:n.422A>G
ENST00000578319.5:n.578A>G
ENST00000578711.1:n.1622A>G
ENST00000578809.5:n.569A>G
ENST00000579425.5:n.1113A>G
ENST00000583848.5:c.363A>G	ENSP00000466487.1:n.363A>G
ENST00000583850.5:n.768A>G
ENST00000583858.5:c.928A>G
NM_000018.3:c.*29A>G	NP_000009.1:n.*29A>G
NM_001033859.2:c.*29A>G	NP_001029031.1:n.*29A>G
NM_001270447.1:c.*29A>G	NP_001257376.1:n.*29A>G
NM_001270448.1:c.*29A>G	NP_001257377.1:n.*29A>G
XM_006721516.2:c.*29A>G	XP_006721579.2:n.*29A>G
XM_011523829.1:c.*29A>G	XP_011522131.1:n.*29A>G
XM_011523830.1:c.*29A>G	XP_011522132.1:n.*29A>G
XR_934021.1:n.2100A>G
XR_934022.1:n.2006A>G
XR_934023.1:n.2027A>G
XM_006721516.3:c.*29A>G	XP_006721579.2:n.*29A>G
XM_011523829.2:c.*29A>G	XP_011522131.1:n.*29A>G
XM_011523830.2:c.*29A>G	XP_011522132.1:n.*29A>G
XM_024450741.1:c.*29A>G	XP_024306509.1:n.*29A>G
XR_934021.2:n.2052A>G
XR_934022.2:n.1958A>G
XR_934023.2:n.1979A>G
NM_000018.4:c.*29A>G MANE Select	NP_000009.1:n.*29A>G
NM_001033859.3:c.*29A>G	NP_001029031.1:n.*29A>G
NM_001270447.2:c.*29A>G	NP_001257376.1:n.*29A>G
NM_001270448.2:c.*29A>G	NP_001257377.1:n.*29A>G