Canonical Allele Identifier: CA981153703

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071307601
• gnomAD v3: 17-7223059-C-T
• gnomAD v4: 17-7223059-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223059C>T , CM000679.2:g.7223059C>T	GRCh38
NC_000017.10:g.7126378C>T , CM000679.1:g.7126378C>T	GRCh37
NC_000017.9:g.7067102C>T	NCBI36
NG_007975.1:g.8226C>T
NG_008391.2:g.1992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1078-74C>T MANE Select	ENSP00000349297.5:n.1078-74C>T
ENST00000322910.9:c.*1033-74C>T	ENSP00000325395.5:n.*1033-74C>T
ENST00000350303.9:c.1012-74C>T	ENSP00000344152.5:n.1012-74C>T
ENST00000356839.9:c.1078-74C>T	ENSP00000349297.5:n.1078-74C>T
ENST00000543245.6:c.1147-74C>T	ENSP00000438689.2:n.1147-74C>T
ENST00000578824.5:n.420C>T
ENST00000579425.5:n.28C>T
ENST00000582379.1:n.655C>T
ENST00000583858.5:c.107-74C>T
ENST00000585203.6:n.212C>T
NM_000018.3:c.1078-74C>T	NP_000009.1:n.1078-74C>T
NM_001033859.2:c.1012-74C>T	NP_001029031.1:n.1012-74C>T
NM_001270447.1:c.1147-74C>T	NP_001257376.1:n.1147-74C>T
NM_001270448.1:c.850-74C>T	NP_001257377.1:n.850-74C>T
XM_006721516.2:c.1078-74C>T	XP_006721579.2:n.1078-74C>T
XM_011523829.1:c.1078-74C>T	XP_011522131.1:n.1078-74C>T
XM_011523830.1:c.1078-74C>T	XP_011522132.1:n.1078-74C>T
XR_934021.1:n.1185-74C>T
XR_934022.1:n.1185-74C>T
XR_934023.1:n.1185-74C>T
XM_006721516.3:c.1078-74C>T	XP_006721579.2:n.1078-74C>T
XM_011523829.2:c.1078-74C>T	XP_011522131.1:n.1078-74C>T
XM_011523830.2:c.1078-74C>T	XP_011522132.1:n.1078-74C>T
XM_024450741.1:c.1078-74C>T	XP_024306509.1:n.1078-74C>T
XR_934021.2:n.1137-74C>T
XR_934022.2:n.1137-74C>T
XR_934023.2:n.1137-74C>T
NM_000018.4:c.1078-74C>T MANE Select	NP_000009.1:n.1078-74C>T
NM_001033859.3:c.1012-74C>T	NP_001029031.1:n.1012-74C>T
NM_001270447.2:c.1147-74C>T	NP_001257376.1:n.1147-74C>T
NM_001270448.2:c.850-74C>T	NP_001257377.1:n.850-74C>T