Canonical Allele Identifier: CA774733985

Gene: ACADVL

Linked Data

• dbSNP Id: rs1343843128
• gnomAD v3: 17-7224445-C-G
• gnomAD v4: 17-7224445-C-G
• MyVariant Identifiers: chr17:g.7127764C>G (hg19) ; chr17:g.7224445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224445C>G , CM000679.2:g.7224445C>G	GRCh38
NC_000017.10:g.7127764C>G , CM000679.1:g.7127764C>G	GRCh37
NC_000017.9:g.7068488C>G	NCBI36
NG_007975.1:g.9612C>G
NG_008391.2:g.606G>C
NG_033038.1:g.15100G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1606-35C>G MANE Select	ENSP00000349297.5:n.1606-35C>G
ENST00000322910.9:c.*1561-35C>G	ENSP00000325395.5:n.*1561-35C>G
ENST00000350303.9:c.1540-35C>G	ENSP00000344152.5:n.1540-35C>G
ENST00000356839.9:c.1606-35C>G	ENSP00000349297.5:n.1606-35C>G
ENST00000542255.6:c.464-35C>G
ENST00000543245.6:c.1675-35C>G	ENSP00000438689.2:n.1675-35C>G
ENST00000578319.5:n.152C>G
ENST00000578711.1:n.941C>G
ENST00000578809.5:n.178-35C>G
ENST00000579391.1:n.214-39C>G
ENST00000579425.5:n.722-35C>G
ENST00000579546.1:c.345-39C>G
ENST00000579894.5:n.393-35C>G
ENST00000582450.1:n.114-35C>G
ENST00000583074.5:n.227-35C>G
ENST00000583850.5:n.381-39C>G
ENST00000583858.5:c.537-35C>G
ENST00000585203.6:n.797-35C>G
NM_000018.3:c.1606-35C>G	NP_000009.1:n.1606-35C>G
NM_001033859.2:c.1540-35C>G	NP_001029031.1:n.1540-35C>G
NM_001270447.1:c.1675-35C>G	NP_001257376.1:n.1675-35C>G
NM_001270448.1:c.1378-35C>G	NP_001257377.1:n.1378-35C>G
XM_006721516.2:c.1606-35C>G	XP_006721579.2:n.1606-35C>G
XM_011523829.1:c.1508-39C>G	XP_011522131.1:n.1508-39C>G
XM_011523830.1:c.1508-39C>G	XP_011522132.1:n.1508-39C>G
XR_934021.1:n.1713-39C>G
XR_934022.1:n.1615-35C>G
XR_934023.1:n.1615-35C>G
XM_006721516.3:c.1606-35C>G	XP_006721579.2:n.1606-35C>G
XM_011523829.2:c.1508-39C>G	XP_011522131.1:n.1508-39C>G
XM_011523830.2:c.1508-39C>G	XP_011522132.1:n.1508-39C>G
XM_024450741.1:c.1559C>G	XP_024306509.1:p.Ala520Gly
XR_934021.2:n.1665-39C>G
XR_934022.2:n.1567-35C>G
XR_934023.2:n.1567-35C>G
NM_000018.4:c.1606-35C>G MANE Select	NP_000009.1:n.1606-35C>G
NM_001033859.3:c.1540-35C>G	NP_001029031.1:n.1540-35C>G
NM_001270447.2:c.1675-35C>G	NP_001257376.1:n.1675-35C>G
NM_001270448.2:c.1378-35C>G	NP_001257377.1:n.1378-35C>G