Canonical Allele Identifier: CA287440412

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 557151
• ClinVar RCV Id: RCV000673252
• dbSNP Id: rs890862631
• gnomAD v2: 17-7127763-G-A
• gnomAD v4: 17-7224444-G-A
• MyVariant Identifiers: chr17:g.7127763G>A (hg19) ; chr17:g.7224444G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224444G>A , CM000679.2:g.7224444G>A	GRCh38
NC_000017.10:g.7127763G>A , CM000679.1:g.7127763G>A	GRCh37
NC_000017.9:g.7068487G>A	NCBI36
NG_007975.1:g.9611G>A
NG_008391.2:g.607C>T
NG_033038.1:g.15101C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1606-36G>A MANE Select	ENSP00000349297.5:n.1606-36G>A
ENST00000322910.9:c.*1561-36G>A	ENSP00000325395.5:n.*1561-36G>A
ENST00000350303.9:c.1540-36G>A	ENSP00000344152.5:n.1540-36G>A
ENST00000356839.9:c.1606-36G>A	ENSP00000349297.5:n.1606-36G>A
ENST00000542255.6:c.464-36G>A
ENST00000543245.6:c.1675-36G>A	ENSP00000438689.2:n.1675-36G>A
ENST00000578319.5:n.151G>A
ENST00000578711.1:n.940G>A
ENST00000578809.5:n.178-36G>A
ENST00000579391.1:n.214-40G>A
ENST00000579425.5:n.722-36G>A
ENST00000579546.1:c.345-40G>A
ENST00000579894.5:n.393-36G>A
ENST00000582450.1:n.114-36G>A
ENST00000583074.5:n.227-36G>A
ENST00000583850.5:n.381-40G>A
ENST00000583858.5:c.537-36G>A
ENST00000585203.6:n.797-36G>A
NM_000018.3:c.1606-36G>A	NP_000009.1:n.1606-36G>A
NM_001033859.2:c.1540-36G>A	NP_001029031.1:n.1540-36G>A
NM_001270447.1:c.1675-36G>A	NP_001257376.1:n.1675-36G>A
NM_001270448.1:c.1378-36G>A	NP_001257377.1:n.1378-36G>A
XM_006721516.2:c.1606-36G>A	XP_006721579.2:n.1606-36G>A
XM_011523829.1:c.1508-40G>A	XP_011522131.1:n.1508-40G>A
XM_011523830.1:c.1508-40G>A	XP_011522132.1:n.1508-40G>A
XR_934021.1:n.1713-40G>A
XR_934022.1:n.1615-36G>A
XR_934023.1:n.1615-36G>A
XM_006721516.3:c.1606-36G>A	XP_006721579.2:n.1606-36G>A
XM_011523829.2:c.1508-40G>A	XP_011522131.1:n.1508-40G>A
XM_011523830.2:c.1508-40G>A	XP_011522132.1:n.1508-40G>A
XM_024450741.1:c.1558G>A	XP_024306509.1:p.Ala520Thr
XR_934021.2:n.1665-40G>A
XR_934022.2:n.1567-36G>A
XR_934023.2:n.1567-36G>A
NM_000018.4:c.1606-36G>A MANE Select	NP_000009.1:n.1606-36G>A
NM_001033859.3:c.1540-36G>A	NP_001029031.1:n.1540-36G>A
NM_001270447.2:c.1675-36G>A	NP_001257376.1:n.1675-36G>A
NM_001270448.2:c.1378-36G>A	NP_001257377.1:n.1378-36G>A