Canonical Allele Identifier: CA397724971

Gene: ACADVL

Linked Data

• dbSNP Id: rs1392710608
• gnomAD v2: 17-7127324-T-A
• gnomAD v4: 17-7224005-T-A
• MyVariant Identifiers: chr17:g.7127324T>A (hg19) ; chr17:g.7224005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224005T>A , CM000679.2:g.7224005T>A	GRCh38
NC_000017.10:g.7127324T>A , CM000679.1:g.7127324T>A	GRCh37
NC_000017.9:g.7068048T>A	NCBI36
NG_007975.1:g.9172T>A
NG_008391.2:g.1046A>T
NG_033038.1:g.15540A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1370T>A MANE Select	ENSP00000349297.5:p.Ile457Asn
ENST00000322910.9:c.*1325T>A	ENSP00000325395.5:n.*1325T>A
ENST00000350303.9:c.1304T>A	ENSP00000344152.5:p.Ile435Asn
ENST00000356839.9:c.1370T>A	ENSP00000349297.5:p.Ile457Asn
ENST00000542255.6:c.228T>A
ENST00000543245.6:c.1439T>A	ENSP00000438689.2:p.Ile480Asn
ENST00000578711.1:n.501T>A
ENST00000579425.5:n.486T>A
ENST00000579546.1:c.207T>A
ENST00000579894.5:n.81T>A
ENST00000583074.5:n.89T>A
ENST00000583850.5:n.145T>A
ENST00000583858.5:c.399T>A
ENST00000585203.6:n.561T>A
NM_000018.3:c.1370T>A	NP_000009.1:p.Ile457Asn
NM_001033859.2:c.1304T>A	NP_001029031.1:p.Ile435Asn
NM_001270447.1:c.1439T>A	NP_001257376.1:p.Ile480Asn
NM_001270448.1:c.1142T>A	NP_001257377.1:p.Ile381Asn
XM_006721516.2:c.1370T>A	XP_006721579.2:p.Ile457Asn
XM_011523829.1:c.1370T>A	XP_011522131.1:p.Ile457Asn
XM_011523830.1:c.1370T>A	XP_011522132.1:p.Ile457Asn
XR_934021.1:n.1477T>A
XR_934022.1:n.1477T>A
XR_934023.1:n.1477T>A
XM_006721516.3:c.1370T>A	XP_006721579.2:p.Ile457Asn
XM_011523829.2:c.1370T>A	XP_011522131.1:p.Ile457Asn
XM_011523830.2:c.1370T>A	XP_011522132.1:p.Ile457Asn
XM_024450741.1:c.1370T>A	XP_024306509.1:p.Ile457Asn
XR_934021.2:n.1429T>A
XR_934022.2:n.1429T>A
XR_934023.2:n.1429T>A
NM_000018.4:c.1370T>A MANE Select	NP_000009.1:p.Ile457Asn
NM_001033859.3:c.1304T>A	NP_001029031.1:p.Ile435Asn
NM_001270447.2:c.1439T>A	NP_001257376.1:p.Ile480Asn
NM_001270448.2:c.1142T>A	NP_001257377.1:p.Ile381Asn