Canonical Allele Identifier: CA397725038

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1362366
• ClinVar RCV Id: RCV001932255
• dbSNP Id: rs2142986109
• MyVariant Identifiers: chr17:g.7127354T>A (hg19) ; chr17:g.7224035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224035T>A , CM000679.2:g.7224035T>A	GRCh38
NC_000017.10:g.7127354T>A , CM000679.1:g.7127354T>A	GRCh37
NC_000017.9:g.7068078T>A	NCBI36
NG_007975.1:g.9202T>A
NG_008391.2:g.1016A>T
NG_033038.1:g.15510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1400T>A MANE Select	ENSP00000349297.5:p.Ile467Asn
ENST00000322910.9:c.*1355T>A	ENSP00000325395.5:n.*1355T>A
ENST00000350303.9:c.1334T>A	ENSP00000344152.5:p.Ile445Asn
ENST00000356839.9:c.1400T>A	ENSP00000349297.5:p.Ile467Asn
ENST00000542255.6:c.258T>A
ENST00000543245.6:c.1469T>A	ENSP00000438689.2:p.Ile490Asn
ENST00000578711.1:n.531T>A
ENST00000579425.5:n.516T>A
ENST00000579546.1:c.237T>A
ENST00000579894.5:n.111T>A
ENST00000583074.5:n.119T>A
ENST00000583850.5:n.175T>A
ENST00000583858.5:c.429T>A
ENST00000585203.6:n.591T>A
NM_000018.3:c.1400T>A	NP_000009.1:p.Ile467Asn
NM_001033859.2:c.1334T>A	NP_001029031.1:p.Ile445Asn
NM_001270447.1:c.1469T>A	NP_001257376.1:p.Ile490Asn
NM_001270448.1:c.1172T>A	NP_001257377.1:p.Ile391Asn
XM_006721516.2:c.1400T>A	XP_006721579.2:p.Ile467Asn
XM_011523829.1:c.1400T>A	XP_011522131.1:p.Ile467Asn
XM_011523830.1:c.1400T>A	XP_011522132.1:p.Ile467Asn
XR_934021.1:n.1507T>A
XR_934022.1:n.1507T>A
XR_934023.1:n.1507T>A
XM_006721516.3:c.1400T>A	XP_006721579.2:p.Ile467Asn
XM_011523829.2:c.1400T>A	XP_011522131.1:p.Ile467Asn
XM_011523830.2:c.1400T>A	XP_011522132.1:p.Ile467Asn
XM_024450741.1:c.1400T>A	XP_024306509.1:p.Ile467Asn
XR_934021.2:n.1459T>A
XR_934022.2:n.1459T>A
XR_934023.2:n.1459T>A
NM_000018.4:c.1400T>A MANE Select	NP_000009.1:p.Ile467Asn
NM_001033859.3:c.1334T>A	NP_001029031.1:p.Ile445Asn
NM_001270447.2:c.1469T>A	NP_001257376.1:p.Ile490Asn
NM_001270448.2:c.1172T>A	NP_001257377.1:p.Ile391Asn