Canonical Allele Identifier: CA981153374

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071277950
• gnomAD v3: 17-7222485-C-T
• gnomAD v4: 17-7222485-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222485C>T , CM000679.2:g.7222485C>T	GRCh38
NC_000017.10:g.7125804C>T , CM000679.1:g.7125804C>T	GRCh37
NC_000017.9:g.7066528C>T	NCBI36
NG_007975.1:g.7652C>T
NG_008391.2:g.2566G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.879-182C>T MANE Select	ENSP00000349297.5:n.879-182C>T
ENST00000322910.9:c.*834-182C>T	ENSP00000325395.5:n.*834-182C>T
ENST00000350303.9:c.813-182C>T	ENSP00000344152.5:n.813-182C>T
ENST00000356839.9:c.879-182C>T	ENSP00000349297.5:n.879-182C>T
ENST00000543245.6:c.948-182C>T	ENSP00000438689.2:n.948-182C>T
ENST00000581378.5:c.597-182C>T
ENST00000582379.1:n.263-182C>T
NM_000018.3:c.879-182C>T	NP_000009.1:n.879-182C>T
NM_001033859.2:c.813-182C>T	NP_001029031.1:n.813-182C>T
NM_001270447.1:c.948-182C>T	NP_001257376.1:n.948-182C>T
NM_001270448.1:c.651-182C>T	NP_001257377.1:n.651-182C>T
XM_006721516.2:c.879-182C>T	XP_006721579.2:n.879-182C>T
XM_011523829.1:c.879-182C>T	XP_011522131.1:n.879-182C>T
XM_011523830.1:c.879-182C>T	XP_011522132.1:n.879-182C>T
XR_934021.1:n.986-182C>T
XR_934022.1:n.986-182C>T
XR_934023.1:n.986-182C>T
XM_006721516.3:c.879-182C>T	XP_006721579.2:n.879-182C>T
XM_011523829.2:c.879-182C>T	XP_011522131.1:n.879-182C>T
XM_011523830.2:c.879-182C>T	XP_011522132.1:n.879-182C>T
XM_024450741.1:c.879-182C>T	XP_024306509.1:n.879-182C>T
XR_934021.2:n.938-182C>T
XR_934022.2:n.938-182C>T
XR_934023.2:n.938-182C>T
NM_000018.4:c.879-182C>T MANE Select	NP_000009.1:n.879-182C>T
NM_001033859.3:c.813-182C>T	NP_001029031.1:n.813-182C>T
NM_001270447.2:c.948-182C>T	NP_001257376.1:n.948-182C>T
NM_001270448.2:c.651-182C>T	NP_001257377.1:n.651-182C>T