Canonical Allele Identifier: CA2635787375

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7225111-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225111G>A , CM000679.2:g.7225111G>A	GRCh38
NC_000017.10:g.7128430G>A , CM000679.1:g.7128430G>A	GRCh37
NC_000017.9:g.7069154G>A	NCBI36
NG_007975.1:g.10278G>A
NG_033038.1:g.14434C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*14G>A MANE Select	ENSP00000349297.5:n.*14G>A
ENST00000322910.9:c.*1937G>A	ENSP00000325395.5:n.*1937G>A
ENST00000350303.9:c.*14G>A	ENSP00000344152.5:n.*14G>A
ENST00000356839.9:c.*14G>A	ENSP00000349297.5:n.*14G>A
ENST00000542255.6:c.861G>A
ENST00000543245.6:c.*14G>A	ENSP00000438689.2:n.*14G>A
ENST00000578033.1:n.407G>A
ENST00000578319.5:n.563G>A
ENST00000578711.1:n.1607G>A
ENST00000578809.5:n.554G>A
ENST00000579425.5:n.1098G>A
ENST00000583848.5:c.348G>A	ENSP00000466487.1:n.348G>A
ENST00000583850.5:n.753G>A
ENST00000583858.5:c.913G>A
NM_000018.3:c.*14G>A	NP_000009.1:n.*14G>A
NM_001033859.2:c.*14G>A	NP_001029031.1:n.*14G>A
NM_001270447.1:c.*14G>A	NP_001257376.1:n.*14G>A
NM_001270448.1:c.*14G>A	NP_001257377.1:n.*14G>A
XM_006721516.2:c.*14G>A	XP_006721579.2:n.*14G>A
XM_011523829.1:c.*14G>A	XP_011522131.1:n.*14G>A
XM_011523830.1:c.*14G>A	XP_011522132.1:n.*14G>A
XR_934021.1:n.2085G>A
XR_934022.1:n.1991G>A
XR_934023.1:n.2012G>A
XM_006721516.3:c.*14G>A	XP_006721579.2:n.*14G>A
XM_011523829.2:c.*14G>A	XP_011522131.1:n.*14G>A
XM_011523830.2:c.*14G>A	XP_011522132.1:n.*14G>A
XM_024450741.1:c.*14G>A	XP_024306509.1:n.*14G>A
XR_934021.2:n.2037G>A
XR_934022.2:n.1943G>A
XR_934023.2:n.1964G>A
NM_000018.4:c.*14G>A MANE Select	NP_000009.1:n.*14G>A
NM_001033859.3:c.*14G>A	NP_001029031.1:n.*14G>A
NM_001270447.2:c.*14G>A	NP_001257376.1:n.*14G>A
NM_001270448.2:c.*14G>A	NP_001257377.1:n.*14G>A