Canonical Allele Identifier: CA397725696

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224668-G-A
• MyVariant Identifiers: chr17:g.7127987G>A (hg19) ; chr17:g.7224668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224668G>A , CM000679.2:g.7224668G>A	GRCh38
NC_000017.10:g.7127987G>A , CM000679.1:g.7127987G>A	GRCh37
NC_000017.9:g.7068711G>A	NCBI36
NG_007975.1:g.9835G>A
NG_008391.2:g.383C>T
NG_033038.1:g.14877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1705G>A MANE Select	ENSP00000349297.5:p.Ala569Thr
ENST00000322910.9:c.*1660G>A	ENSP00000325395.5:n.*1660G>A
ENST00000350303.9:c.1639G>A	ENSP00000344152.5:p.Ala547Thr
ENST00000356839.9:c.1705G>A	ENSP00000349297.5:p.Ala569Thr
ENST00000542255.6:c.537-47G>A
ENST00000543245.6:c.1774G>A	ENSP00000438689.2:p.Ala592Thr
ENST00000578033.1:n.36G>A
ENST00000578319.5:n.286G>A
ENST00000578711.1:n.1164G>A
ENST00000578809.5:n.277G>A
ENST00000579425.5:n.821G>A
ENST00000579546.1:c.440G>A
ENST00000583074.5:n.300-47G>A
ENST00000583848.5:c.71G>A	ENSP00000466487.1:p.Gly24Asp
ENST00000583850.5:n.476G>A
ENST00000583858.5:c.636G>A
ENST00000585203.6:n.896G>A
NM_000018.3:c.1705G>A	NP_000009.1:p.Ala569Thr
NM_001033859.2:c.1639G>A	NP_001029031.1:p.Ala547Thr
NM_001270447.1:c.1774G>A	NP_001257376.1:p.Ala592Thr
NM_001270448.1:c.1477G>A	NP_001257377.1:p.Ala493Thr
XM_006721516.2:c.1679-47G>A	XP_006721579.2:n.1679-47G>A
XM_011523829.1:c.1577-47G>A	XP_011522131.1:n.1577-47G>A
XM_011523830.1:c.1603G>A	XP_011522132.1:p.Ala535Thr
XR_934021.1:n.1808G>A
XR_934022.1:n.1714G>A
XR_934023.1:n.1688-47G>A
XM_006721516.3:c.1679-47G>A	XP_006721579.2:n.1679-47G>A
XM_011523829.2:c.1577-47G>A	XP_011522131.1:n.1577-47G>A
XM_011523830.2:c.1603G>A	XP_011522132.1:p.Ala535Thr
XM_024450741.1:c.1693G>A	XP_024306509.1:p.Ala565Thr
XR_934021.2:n.1760G>A
XR_934022.2:n.1666G>A
XR_934023.2:n.1640-47G>A
NM_000018.4:c.1705G>A MANE Select	NP_000009.1:p.Ala569Thr
NM_001033859.3:c.1639G>A	NP_001029031.1:p.Ala547Thr
NM_001270447.2:c.1774G>A	NP_001257376.1:p.Ala592Thr
NM_001270448.2:c.1477G>A	NP_001257377.1:p.Ala493Thr