Canonical Allele Identifier: CA2635787378

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225116-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225116T>C , CM000679.2:g.7225116T>C	GRCh38
NC_000017.10:g.7128435T>C , CM000679.1:g.7128435T>C	GRCh37
NC_000017.9:g.7069159T>C	NCBI36
NG_007975.1:g.10283T>C
NG_033038.1:g.14429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*19T>C MANE Select	ENSP00000349297.5:n.*19T>C
ENST00000322910.9:c.*1942T>C	ENSP00000325395.5:n.*1942T>C
ENST00000350303.9:c.*19T>C	ENSP00000344152.5:n.*19T>C
ENST00000356839.9:c.*19T>C	ENSP00000349297.5:n.*19T>C
ENST00000542255.6:c.866T>C
ENST00000543245.6:c.*19T>C	ENSP00000438689.2:n.*19T>C
ENST00000578033.1:n.412T>C
ENST00000578319.5:n.568T>C
ENST00000578711.1:n.1612T>C
ENST00000578809.5:n.559T>C
ENST00000579425.5:n.1103T>C
ENST00000583848.5:c.353T>C	ENSP00000466487.1:n.353T>C
ENST00000583850.5:n.758T>C
ENST00000583858.5:c.918T>C
NM_000018.3:c.*19T>C	NP_000009.1:n.*19T>C
NM_001033859.2:c.*19T>C	NP_001029031.1:n.*19T>C
NM_001270447.1:c.*19T>C	NP_001257376.1:n.*19T>C
NM_001270448.1:c.*19T>C	NP_001257377.1:n.*19T>C
XM_006721516.2:c.*19T>C	XP_006721579.2:n.*19T>C
XM_011523829.1:c.*19T>C	XP_011522131.1:n.*19T>C
XM_011523830.1:c.*19T>C	XP_011522132.1:n.*19T>C
XR_934021.1:n.2090T>C
XR_934022.1:n.1996T>C
XR_934023.1:n.2017T>C
XM_006721516.3:c.*19T>C	XP_006721579.2:n.*19T>C
XM_011523829.2:c.*19T>C	XP_011522131.1:n.*19T>C
XM_011523830.2:c.*19T>C	XP_011522132.1:n.*19T>C
XM_024450741.1:c.*19T>C	XP_024306509.1:n.*19T>C
XR_934021.2:n.2042T>C
XR_934022.2:n.1948T>C
XR_934023.2:n.1969T>C
NM_000018.4:c.*19T>C MANE Select	NP_000009.1:n.*19T>C
NM_001033859.3:c.*19T>C	NP_001029031.1:n.*19T>C
NM_001270447.2:c.*19T>C	NP_001257376.1:n.*19T>C
NM_001270448.2:c.*19T>C	NP_001257377.1:n.*19T>C