Canonical Allele Identifier: CA397723033

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124876T>A (hg19) ; chr17:g.7221557T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221557T>A , CM000679.2:g.7221557T>A	GRCh38
NC_000017.10:g.7124876T>A , CM000679.1:g.7124876T>A	GRCh37
NC_000017.9:g.7065600T>A	NCBI36
NG_007975.1:g.6724T>A
NG_008391.2:g.3494A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.497T>A MANE Select	ENSP00000349297.5:p.Ile166Asn
ENST00000322910.9:c.*452T>A	ENSP00000325395.5:n.*452T>A
ENST00000350303.9:c.431T>A	ENSP00000344152.5:p.Ile144Asn
ENST00000356839.9:c.497T>A	ENSP00000349297.5:p.Ile166Asn
ENST00000543245.6:c.566T>A	ENSP00000438689.2:p.Ile189Asn
ENST00000577191.5:n.574T>A
ENST00000577433.5:n.705T>A
ENST00000577857.5:n.313T>A
ENST00000579286.5:n.678T>A
ENST00000579886.2:c.335T>A	ENSP00000463246.1:p.Ile112Asn
ENST00000580365.1:n.228T>A
ENST00000581378.5:c.215T>A
ENST00000581562.5:n.525-395T>A
ENST00000582166.1:n.478T>A
ENST00000583312.5:c.497T>A	ENSP00000467920.1:p.Ile166Asn
ENST00000583760.1:n.279T>A
NM_000018.3:c.497T>A	NP_000009.1:p.Ile166Asn
NM_001033859.2:c.431T>A	NP_001029031.1:p.Ile144Asn
NM_001270447.1:c.566T>A	NP_001257376.1:p.Ile189Asn
NM_001270448.1:c.269T>A	NP_001257377.1:p.Ile90Asn
XM_006721516.2:c.497T>A	XP_006721579.2:p.Ile166Asn
XM_011523829.1:c.497T>A	XP_011522131.1:p.Ile166Asn
XM_011523830.1:c.497T>A	XP_011522132.1:p.Ile166Asn
XR_934021.1:n.604T>A
XR_934022.1:n.604T>A
XR_934023.1:n.604T>A
XM_006721516.3:c.497T>A	XP_006721579.2:p.Ile166Asn
XM_011523829.2:c.497T>A	XP_011522131.1:p.Ile166Asn
XM_011523830.2:c.497T>A	XP_011522132.1:p.Ile166Asn
XM_024450741.1:c.497T>A	XP_024306509.1:p.Ile166Asn
XR_934021.2:n.556T>A
XR_934022.2:n.556T>A
XR_934023.2:n.556T>A
NM_000018.4:c.497T>A MANE Select	NP_000009.1:p.Ile166Asn
NM_001033859.3:c.431T>A	NP_001029031.1:p.Ile144Asn
NM_001270447.2:c.566T>A	NP_001257376.1:p.Ile189Asn
NM_001270448.2:c.269T>A	NP_001257377.1:p.Ile90Asn