Canonical Allele Identifier: CA981155491

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071417564
• gnomAD v3: 17-7225123-G-C
• gnomAD v4: 17-7225123-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225123G>C , CM000679.2:g.7225123G>C	GRCh38
NC_000017.10:g.7128442G>C , CM000679.1:g.7128442G>C	GRCh37
NC_000017.9:g.7069166G>C	NCBI36
NG_007975.1:g.10290G>C
NG_033038.1:g.14422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*26G>C MANE Select	ENSP00000349297.5:n.*26G>C
ENST00000322910.9:c.*1949G>C	ENSP00000325395.5:n.*1949G>C
ENST00000350303.9:c.*26G>C	ENSP00000344152.5:n.*26G>C
ENST00000356839.9:c.*26G>C	ENSP00000349297.5:n.*26G>C
ENST00000542255.6:c.873G>C
ENST00000543245.6:c.*26G>C	ENSP00000438689.2:n.*26G>C
ENST00000578033.1:n.419G>C
ENST00000578319.5:n.575G>C
ENST00000578711.1:n.1619G>C
ENST00000578809.5:n.566G>C
ENST00000579425.5:n.1110G>C
ENST00000583848.5:c.360G>C	ENSP00000466487.1:n.360G>C
ENST00000583850.5:n.765G>C
ENST00000583858.5:c.925G>C
NM_000018.3:c.*26G>C	NP_000009.1:n.*26G>C
NM_001033859.2:c.*26G>C	NP_001029031.1:n.*26G>C
NM_001270447.1:c.*26G>C	NP_001257376.1:n.*26G>C
NM_001270448.1:c.*26G>C	NP_001257377.1:n.*26G>C
XM_006721516.2:c.*26G>C	XP_006721579.2:n.*26G>C
XM_011523829.1:c.*26G>C	XP_011522131.1:n.*26G>C
XM_011523830.1:c.*26G>C	XP_011522132.1:n.*26G>C
XR_934021.1:n.2097G>C
XR_934022.1:n.2003G>C
XR_934023.1:n.2024G>C
XM_006721516.3:c.*26G>C	XP_006721579.2:n.*26G>C
XM_011523829.2:c.*26G>C	XP_011522131.1:n.*26G>C
XM_011523830.2:c.*26G>C	XP_011522132.1:n.*26G>C
XM_024450741.1:c.*26G>C	XP_024306509.1:n.*26G>C
XR_934021.2:n.2049G>C
XR_934022.2:n.1955G>C
XR_934023.2:n.1976G>C
NM_000018.4:c.*26G>C MANE Select	NP_000009.1:n.*26G>C
NM_001033859.3:c.*26G>C	NP_001029031.1:n.*26G>C
NM_001270447.2:c.*26G>C	NP_001257376.1:n.*26G>C
NM_001270448.2:c.*26G>C	NP_001257377.1:n.*26G>C