Canonical Allele Identifier: CA2838752716

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222872A>C , CM000679.2:g.7222872A>C	GRCh38
NC_000017.10:g.7126191A>C , CM000679.1:g.7126191A>C	GRCh37
NC_000017.9:g.7066915A>C	NCBI36
NG_007975.1:g.8039A>C
NG_008391.2:g.2179T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1077+7A>C MANE Select	ENSP00000349297.5:n.1077+7A>C
ENST00000322910.9:c.*1032+7A>C	ENSP00000325395.5:n.*1032+7A>C
ENST00000350303.9:c.1011+7A>C	ENSP00000344152.5:n.1011+7A>C
ENST00000356839.9:c.1077+7A>C	ENSP00000349297.5:n.1077+7A>C
ENST00000543245.6:c.1146+7A>C	ENSP00000438689.2:n.1146+7A>C
ENST00000578824.5:n.233A>C
ENST00000582379.1:n.468A>C
ENST00000583858.5:c.106+7A>C
ENST00000585203.6:n.25A>C
NM_000018.3:c.1077+7A>C	NP_000009.1:n.1077+7A>C
NM_001033859.2:c.1011+7A>C	NP_001029031.1:n.1011+7A>C
NM_001270447.1:c.1146+7A>C	NP_001257376.1:n.1146+7A>C
NM_001270448.1:c.849+7A>C	NP_001257377.1:n.849+7A>C
XM_006721516.2:c.1077+7A>C	XP_006721579.2:n.1077+7A>C
XM_011523829.1:c.1077+7A>C	XP_011522131.1:n.1077+7A>C
XM_011523830.1:c.1077+7A>C	XP_011522132.1:n.1077+7A>C
XR_934021.1:n.1184+7A>C
XR_934022.1:n.1184+7A>C
XR_934023.1:n.1184+7A>C
XM_006721516.3:c.1077+7A>C	XP_006721579.2:n.1077+7A>C
XM_011523829.2:c.1077+7A>C	XP_011522131.1:n.1077+7A>C
XM_011523830.2:c.1077+7A>C	XP_011522132.1:n.1077+7A>C
XM_024450741.1:c.1077+7A>C	XP_024306509.1:n.1077+7A>C
XR_934021.2:n.1136+7A>C
XR_934022.2:n.1136+7A>C
XR_934023.2:n.1136+7A>C
NM_000018.4:c.1077+7A>C MANE Select	NP_000009.1:n.1077+7A>C
NM_001033859.3:c.1011+7A>C	NP_001029031.1:n.1011+7A>C
NM_001270447.2:c.1146+7A>C	NP_001257376.1:n.1146+7A>C
NM_001270448.2:c.849+7A>C	NP_001257377.1:n.849+7A>C