Canonical Allele Identifier: CA497694565

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1097372
• ClinVar RCV Id: RCV001418966
• dbSNP Id: rs2142991198
• gnomAD v4: 17-7225028-C-T
• MyVariant Identifiers: chr17:g.7128347C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225028C>T , CM000679.2:g.7225028C>T	GRCh38
NC_000017.10:g.7128347C>T , CM000679.1:g.7128347C>T	GRCh37
NC_000017.9:g.7069071C>T	NCBI36
NG_007975.1:g.10195C>T
NG_008391.2:g.23G>A
NG_033038.1:g.14517G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1899C>T MANE Select	ENSP00000349297.5:p.Asn633=
ENST00000322910.9:c.*1854C>T	ENSP00000325395.5:n.*1854C>T
ENST00000350303.9:c.1833C>T	ENSP00000344152.5:p.Asn611=
ENST00000356839.9:c.1899C>T	ENSP00000349297.5:p.Asn633=
ENST00000542255.6:c.778C>T
ENST00000543245.6:c.1968C>T	ENSP00000438689.2:p.Asn656=
ENST00000578033.1:n.324C>T
ENST00000578319.5:n.480C>T
ENST00000578711.1:n.1524C>T
ENST00000578809.5:n.471C>T
ENST00000579425.5:n.1015C>T
ENST00000583848.5:c.265C>T	ENSP00000466487.1:n.265C>T
ENST00000583850.5:n.670C>T
ENST00000583858.5:c.830C>T
NM_000018.3:c.1899C>T	NP_000009.1:p.Asn633=
NM_001033859.2:c.1833C>T	NP_001029031.1:p.Asn611=
NM_001270447.1:c.1968C>T	NP_001257376.1:p.Asn656=
NM_001270448.1:c.1671C>T	NP_001257377.1:p.Asn557=
XM_006721516.2:c.1920C>T	XP_006721579.2:p.Asn640=
XM_011523829.1:c.1818C>T	XP_011522131.1:p.Asn606=
XM_011523830.1:c.1797C>T	XP_011522132.1:p.Asn599=
XR_934021.1:n.2002C>T
XR_934022.1:n.1908C>T
XR_934023.1:n.1929C>T
XM_006721516.3:c.1920C>T	XP_006721579.2:p.Asn640=
XM_011523829.2:c.1818C>T	XP_011522131.1:p.Asn606=
XM_011523830.2:c.1797C>T	XP_011522132.1:p.Asn599=
XM_024450741.1:c.1887C>T	XP_024306509.1:p.Asn629=
XR_934021.2:n.1954C>T
XR_934022.2:n.1860C>T
XR_934023.2:n.1881C>T
NM_000018.4:c.1899C>T MANE Select	NP_000009.1:p.Asn633=
NM_001033859.3:c.1833C>T	NP_001029031.1:p.Asn611=
NM_001270447.2:c.1968C>T	NP_001257376.1:p.Asn656=
NM_001270448.2:c.1671C>T	NP_001257377.1:p.Asn557=