Canonical Allele Identifier: CA2576147719

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224945-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224945C>G , CM000679.2:g.7224945C>G	GRCh38
NC_000017.10:g.7128264C>G , CM000679.1:g.7128264C>G	GRCh37
NC_000017.9:g.7068988C>G	NCBI36
NG_007975.1:g.10112C>G
NG_008391.2:g.106G>C
NG_033038.1:g.14600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1828-12C>G MANE Select	ENSP00000349297.5:n.1828-12C>G
ENST00000322910.9:c.*1783-12C>G	ENSP00000325395.5:n.*1783-12C>G
ENST00000350303.9:c.1762-12C>G	ENSP00000344152.5:n.1762-12C>G
ENST00000356839.9:c.1828-12C>G	ENSP00000349297.5:n.1828-12C>G
ENST00000542255.6:c.707-12C>G
ENST00000543245.6:c.1897-12C>G	ENSP00000438689.2:n.1897-12C>G
ENST00000578033.1:n.253-12C>G
ENST00000578319.5:n.409-12C>G
ENST00000578711.1:n.1441C>G
ENST00000578809.5:n.400-12C>G
ENST00000579425.5:n.944-12C>G
ENST00000579546.1:c.563-12C>G
ENST00000583848.5:c.194-12C>G	ENSP00000466487.1:n.194-12C>G
ENST00000583850.5:n.599-12C>G
ENST00000583858.5:c.759-12C>G
NM_000018.3:c.1828-12C>G	NP_000009.1:n.1828-12C>G
NM_001033859.2:c.1762-12C>G	NP_001029031.1:n.1762-12C>G
NM_001270447.1:c.1897-12C>G	NP_001257376.1:n.1897-12C>G
NM_001270448.1:c.1600-12C>G	NP_001257377.1:n.1600-12C>G
XM_006721516.2:c.1849-12C>G	XP_006721579.2:n.1849-12C>G
XM_011523829.1:c.1747-12C>G	XP_011522131.1:n.1747-12C>G
XM_011523830.1:c.1726-12C>G	XP_011522132.1:n.1726-12C>G
XR_934021.1:n.1931-12C>G
XR_934022.1:n.1837-12C>G
XR_934023.1:n.1858-12C>G
XM_006721516.3:c.1849-12C>G	XP_006721579.2:n.1849-12C>G
XM_011523829.2:c.1747-12C>G	XP_011522131.1:n.1747-12C>G
XM_011523830.2:c.1726-12C>G	XP_011522132.1:n.1726-12C>G
XM_024450741.1:c.1816-12C>G	XP_024306509.1:n.1816-12C>G
XR_934021.2:n.1883-12C>G
XR_934022.2:n.1789-12C>G
XR_934023.2:n.1810-12C>G
NM_000018.4:c.1828-12C>G MANE Select	NP_000009.1:n.1828-12C>G
NM_001033859.3:c.1762-12C>G	NP_001029031.1:n.1762-12C>G
NM_001270447.2:c.1897-12C>G	NP_001257376.1:n.1897-12C>G
NM_001270448.2:c.1600-12C>G	NP_001257377.1:n.1600-12C>G