Canonical Allele Identifier: CA2635786627

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224733-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224733A>C , CM000679.2:g.7224733A>C	GRCh38
NC_000017.10:g.7128052A>C , CM000679.1:g.7128052A>C	GRCh37
NC_000017.9:g.7068776A>C	NCBI36
NG_007975.1:g.9900A>C
NG_008391.2:g.318T>G
NG_033038.1:g.14812T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1751+19A>C MANE Select	ENSP00000349297.5:n.1751+19A>C
ENST00000322910.9:c.*1706+19A>C	ENSP00000325395.5:n.*1706+19A>C
ENST00000350303.9:c.1685+19A>C	ENSP00000344152.5:n.1685+19A>C
ENST00000356839.9:c.1751+19A>C	ENSP00000349297.5:n.1751+19A>C
ENST00000542255.6:c.555A>C
ENST00000543245.6:c.1820+19A>C	ENSP00000438689.2:n.1820+19A>C
ENST00000578033.1:n.101A>C
ENST00000578319.5:n.332+19A>C
ENST00000578711.1:n.1229A>C
ENST00000578809.5:n.323+19A>C
ENST00000579425.5:n.867+19A>C
ENST00000579546.1:c.486+19A>C
ENST00000583074.5:n.318A>C
ENST00000583848.5:c.117+19A>C	ENSP00000466487.1:n.117+19A>C
ENST00000583850.5:n.522+19A>C
ENST00000583858.5:c.682+19A>C
ENST00000585203.6:n.942+19A>C
NM_000018.3:c.1751+19A>C	NP_000009.1:n.1751+19A>C
NM_001033859.2:c.1685+19A>C	NP_001029031.1:n.1685+19A>C
NM_001270447.1:c.1820+19A>C	NP_001257376.1:n.1820+19A>C
NM_001270448.1:c.1523+19A>C	NP_001257377.1:n.1523+19A>C
XM_006721516.2:c.1697A>C	XP_006721579.2:p.Glu566Ala
XM_011523829.1:c.1595A>C	XP_011522131.1:p.Glu532Ala
XM_011523830.1:c.1649+19A>C	XP_011522132.1:n.1649+19A>C
XR_934021.1:n.1854+19A>C
XR_934022.1:n.1760+19A>C
XR_934023.1:n.1706A>C
XM_006721516.3:c.1697A>C	XP_006721579.2:p.Glu566Ala
XM_011523829.2:c.1595A>C	XP_011522131.1:p.Glu532Ala
XM_011523830.2:c.1649+19A>C	XP_011522132.1:n.1649+19A>C
XM_024450741.1:c.1739+19A>C	XP_024306509.1:n.1739+19A>C
XR_934021.2:n.1806+19A>C
XR_934022.2:n.1712+19A>C
XR_934023.2:n.1658A>C
NM_000018.4:c.1751+19A>C MANE Select	NP_000009.1:n.1751+19A>C
NM_001033859.3:c.1685+19A>C	NP_001029031.1:n.1685+19A>C
NM_001270447.2:c.1820+19A>C	NP_001257376.1:n.1820+19A>C
NM_001270448.2:c.1523+19A>C	NP_001257377.1:n.1523+19A>C