Canonical Allele Identifier: CA2635786945

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224891-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224891C>G , CM000679.2:g.7224891C>G	GRCh38
NC_000017.10:g.7128210C>G , CM000679.1:g.7128210C>G	GRCh37
NC_000017.9:g.7068934C>G	NCBI36
NG_007975.1:g.10058C>G
NG_008391.2:g.160G>C
NG_033038.1:g.14654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1827+7C>G MANE Select	ENSP00000349297.5:n.1827+7C>G
ENST00000322910.9:c.*1782+7C>G	ENSP00000325395.5:n.*1782+7C>G
ENST00000350303.9:c.1761+7C>G	ENSP00000344152.5:n.1761+7C>G
ENST00000356839.9:c.1827+7C>G	ENSP00000349297.5:n.1827+7C>G
ENST00000542255.6:c.706+7C>G
ENST00000543245.6:c.1896+7C>G	ENSP00000438689.2:n.1896+7C>G
ENST00000578033.1:n.252+7C>G
ENST00000578319.5:n.408+7C>G
ENST00000578711.1:n.1387C>G
ENST00000578809.5:n.399+7C>G
ENST00000579425.5:n.943+7C>G
ENST00000579546.1:c.562+7C>G
ENST00000583848.5:c.193+7C>G	ENSP00000466487.1:n.193+7C>G
ENST00000583850.5:n.598+7C>G
ENST00000583858.5:c.758+7C>G
NM_000018.3:c.1827+7C>G	NP_000009.1:n.1827+7C>G
NM_001033859.2:c.1761+7C>G	NP_001029031.1:n.1761+7C>G
NM_001270447.1:c.1896+7C>G	NP_001257376.1:n.1896+7C>G
NM_001270448.1:c.1599+7C>G	NP_001257377.1:n.1599+7C>G
XM_006721516.2:c.1848+7C>G	XP_006721579.2:n.1848+7C>G
XM_011523829.1:c.1746+7C>G	XP_011522131.1:n.1746+7C>G
XM_011523830.1:c.1725+7C>G	XP_011522132.1:n.1725+7C>G
XR_934021.1:n.1930+7C>G
XR_934022.1:n.1836+7C>G
XR_934023.1:n.1857+7C>G
XM_006721516.3:c.1848+7C>G	XP_006721579.2:n.1848+7C>G
XM_011523829.2:c.1746+7C>G	XP_011522131.1:n.1746+7C>G
XM_011523830.2:c.1725+7C>G	XP_011522132.1:n.1725+7C>G
XM_024450741.1:c.1815+7C>G	XP_024306509.1:n.1815+7C>G
XR_934021.2:n.1882+7C>G
XR_934022.2:n.1788+7C>G
XR_934023.2:n.1809+7C>G
NM_000018.4:c.1827+7C>G MANE Select	NP_000009.1:n.1827+7C>G
NM_001033859.3:c.1761+7C>G	NP_001029031.1:n.1761+7C>G
NM_001270447.2:c.1896+7C>G	NP_001257376.1:n.1896+7C>G
NM_001270448.2:c.1599+7C>G	NP_001257377.1:n.1599+7C>G