Canonical Allele Identifier: CA397725715

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224677-G-A
• MyVariant Identifiers: chr17:g.7127996G>A (hg19) ; chr17:g.7224677G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224677G>A , CM000679.2:g.7224677G>A	GRCh38
NC_000017.10:g.7127996G>A , CM000679.1:g.7127996G>A	GRCh37
NC_000017.9:g.7068720G>A	NCBI36
NG_007975.1:g.9844G>A
NG_008391.2:g.374C>T
NG_033038.1:g.14868C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1714G>A MANE Select	ENSP00000349297.5:p.Ala572Thr
ENST00000322910.9:c.*1669G>A	ENSP00000325395.5:n.*1669G>A
ENST00000350303.9:c.1648G>A	ENSP00000344152.5:p.Ala550Thr
ENST00000356839.9:c.1714G>A	ENSP00000349297.5:p.Ala572Thr
ENST00000542255.6:c.537-38G>A
ENST00000543245.6:c.1783G>A	ENSP00000438689.2:p.Ala595Thr
ENST00000578033.1:n.45G>A
ENST00000578319.5:n.295G>A
ENST00000578711.1:n.1173G>A
ENST00000578809.5:n.286G>A
ENST00000579425.5:n.830G>A
ENST00000579546.1:c.449G>A
ENST00000583074.5:n.300-38G>A
ENST00000583848.5:c.80G>A	ENSP00000466487.1:p.Gly27Asp
ENST00000583850.5:n.485G>A
ENST00000583858.5:c.645G>A
ENST00000585203.6:n.905G>A
NM_000018.3:c.1714G>A	NP_000009.1:p.Ala572Thr
NM_001033859.2:c.1648G>A	NP_001029031.1:p.Ala550Thr
NM_001270447.1:c.1783G>A	NP_001257376.1:p.Ala595Thr
NM_001270448.1:c.1486G>A	NP_001257377.1:p.Ala496Thr
XM_006721516.2:c.1679-38G>A	XP_006721579.2:n.1679-38G>A
XM_011523829.1:c.1577-38G>A	XP_011522131.1:n.1577-38G>A
XM_011523830.1:c.1612G>A	XP_011522132.1:p.Ala538Thr
XR_934021.1:n.1817G>A
XR_934022.1:n.1723G>A
XR_934023.1:n.1688-38G>A
XM_006721516.3:c.1679-38G>A	XP_006721579.2:n.1679-38G>A
XM_011523829.2:c.1577-38G>A	XP_011522131.1:n.1577-38G>A
XM_011523830.2:c.1612G>A	XP_011522132.1:p.Ala538Thr
XM_024450741.1:c.1702G>A	XP_024306509.1:p.Ala568Thr
XR_934021.2:n.1769G>A
XR_934022.2:n.1675G>A
XR_934023.2:n.1640-38G>A
NM_000018.4:c.1714G>A MANE Select	NP_000009.1:p.Ala572Thr
NM_001033859.3:c.1648G>A	NP_001029031.1:p.Ala550Thr
NM_001270447.2:c.1783G>A	NP_001257376.1:p.Ala595Thr
NM_001270448.2:c.1486G>A	NP_001257377.1:p.Ala496Thr