Canonical Allele Identifier: CA2635782540

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7222479-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222479G>C , CM000679.2:g.7222479G>C	GRCh38
NC_000017.10:g.7125798G>C , CM000679.1:g.7125798G>C	GRCh37
NC_000017.9:g.7066522G>C	NCBI36
NG_007975.1:g.7646G>C
NG_008391.2:g.2572C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.878+177G>C MANE Select	ENSP00000349297.5:n.878+177G>C
ENST00000322910.9:c.*833+177G>C	ENSP00000325395.5:n.*833+177G>C
ENST00000350303.9:c.812+177G>C	ENSP00000344152.5:n.812+177G>C
ENST00000356839.9:c.878+177G>C	ENSP00000349297.5:n.878+177G>C
ENST00000543245.6:c.947+177G>C	ENSP00000438689.2:n.947+177G>C
ENST00000581378.5:c.596+177G>C
ENST00000582379.1:n.262+177G>C
NM_000018.3:c.878+177G>C	NP_000009.1:n.878+177G>C
NM_001033859.2:c.812+177G>C	NP_001029031.1:n.812+177G>C
NM_001270447.1:c.947+177G>C	NP_001257376.1:n.947+177G>C
NM_001270448.1:c.650+177G>C	NP_001257377.1:n.650+177G>C
XM_006721516.2:c.878+177G>C	XP_006721579.2:n.878+177G>C
XM_011523829.1:c.878+177G>C	XP_011522131.1:n.878+177G>C
XM_011523830.1:c.878+177G>C	XP_011522132.1:n.878+177G>C
XR_934021.1:n.985+177G>C
XR_934022.1:n.985+177G>C
XR_934023.1:n.985+177G>C
XM_006721516.3:c.878+177G>C	XP_006721579.2:n.878+177G>C
XM_011523829.2:c.878+177G>C	XP_011522131.1:n.878+177G>C
XM_011523830.2:c.878+177G>C	XP_011522132.1:n.878+177G>C
XM_024450741.1:c.878+177G>C	XP_024306509.1:n.878+177G>C
XR_934021.2:n.937+177G>C
XR_934022.2:n.937+177G>C
XR_934023.2:n.937+177G>C
NM_000018.4:c.878+177G>C MANE Select	NP_000009.1:n.878+177G>C
NM_001033859.3:c.812+177G>C	NP_001029031.1:n.812+177G>C
NM_001270447.2:c.947+177G>C	NP_001257376.1:n.947+177G>C
NM_001270448.2:c.650+177G>C	NP_001257377.1:n.650+177G>C