Canonical Allele Identifier: CA397726127

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128345A>T (hg19) ; chr17:g.7225026A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225026A>T , CM000679.2:g.7225026A>T	GRCh38
NC_000017.10:g.7128345A>T , CM000679.1:g.7128345A>T	GRCh37
NC_000017.9:g.7069069A>T	NCBI36
NG_007975.1:g.10193A>T
NG_008391.2:g.25T>A
NG_033038.1:g.14519T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1897A>T MANE Select	ENSP00000349297.5:p.Asn633Tyr
ENST00000322910.9:c.*1852A>T	ENSP00000325395.5:n.*1852A>T
ENST00000350303.9:c.1831A>T	ENSP00000344152.5:p.Asn611Tyr
ENST00000356839.9:c.1897A>T	ENSP00000349297.5:p.Asn633Tyr
ENST00000542255.6:c.776A>T
ENST00000543245.6:c.1966A>T	ENSP00000438689.2:p.Asn656Tyr
ENST00000578033.1:n.322A>T
ENST00000578319.5:n.478A>T
ENST00000578711.1:n.1522A>T
ENST00000578809.5:n.469A>T
ENST00000579425.5:n.1013A>T
ENST00000583848.5:c.263A>T	ENSP00000466487.1:n.263A>T
ENST00000583850.5:n.668A>T
ENST00000583858.5:c.828A>T
NM_000018.3:c.1897A>T	NP_000009.1:p.Asn633Tyr
NM_001033859.2:c.1831A>T	NP_001029031.1:p.Asn611Tyr
NM_001270447.1:c.1966A>T	NP_001257376.1:p.Asn656Tyr
NM_001270448.1:c.1669A>T	NP_001257377.1:p.Asn557Tyr
XM_006721516.2:c.1918A>T	XP_006721579.2:p.Asn640Tyr
XM_011523829.1:c.1816A>T	XP_011522131.1:p.Asn606Tyr
XM_011523830.1:c.1795A>T	XP_011522132.1:p.Asn599Tyr
XR_934021.1:n.2000A>T
XR_934022.1:n.1906A>T
XR_934023.1:n.1927A>T
XM_006721516.3:c.1918A>T	XP_006721579.2:p.Asn640Tyr
XM_011523829.2:c.1816A>T	XP_011522131.1:p.Asn606Tyr
XM_011523830.2:c.1795A>T	XP_011522132.1:p.Asn599Tyr
XM_024450741.1:c.1885A>T	XP_024306509.1:p.Asn629Tyr
XR_934021.2:n.1952A>T
XR_934022.2:n.1858A>T
XR_934023.2:n.1879A>T
NM_000018.4:c.1897A>T MANE Select	NP_000009.1:p.Asn633Tyr
NM_001033859.3:c.1831A>T	NP_001029031.1:p.Asn611Tyr
NM_001270447.2:c.1966A>T	NP_001257376.1:p.Asn656Tyr
NM_001270448.2:c.1669A>T	NP_001257377.1:p.Asn557Tyr