Canonical Allele Identifier: CA397725620

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127866T>A (hg19) ; chr17:g.7224547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224547T>A , CM000679.2:g.7224547T>A	GRCh38
NC_000017.10:g.7127866T>A , CM000679.1:g.7127866T>A	GRCh37
NC_000017.9:g.7068590T>A	NCBI36
NG_007975.1:g.9714T>A
NG_008391.2:g.504A>T
NG_033038.1:g.14998A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1673T>A MANE Select	ENSP00000349297.5:p.Ile558Asn
ENST00000322910.9:c.*1628T>A	ENSP00000325395.5:n.*1628T>A
ENST00000350303.9:c.1607T>A	ENSP00000344152.5:p.Ile536Asn
ENST00000356839.9:c.1673T>A	ENSP00000349297.5:p.Ile558Asn
ENST00000542255.6:c.531T>A
ENST00000543245.6:c.1742T>A	ENSP00000438689.2:p.Ile581Asn
ENST00000578319.5:n.254T>A
ENST00000578711.1:n.1043T>A
ENST00000578809.5:n.245T>A
ENST00000579391.1:n.277T>A
ENST00000579425.5:n.789T>A
ENST00000579546.1:c.408T>A
ENST00000582450.1:n.181T>A
ENST00000583074.5:n.294T>A
ENST00000583848.5:c.59T>A	ENSP00000466487.1:p.Ile20Asn
ENST00000583850.5:n.444T>A
ENST00000583858.5:c.604T>A
ENST00000585203.6:n.864T>A
NM_000018.3:c.1673T>A	NP_000009.1:p.Ile558Asn
NM_001033859.2:c.1607T>A	NP_001029031.1:p.Ile536Asn
NM_001270447.1:c.1742T>A	NP_001257376.1:p.Ile581Asn
NM_001270448.1:c.1445T>A	NP_001257377.1:p.Ile482Asn
XM_006721516.2:c.1673T>A	XP_006721579.2:p.Ile558Asn
XM_011523829.1:c.1571T>A	XP_011522131.1:p.Ile524Asn
XM_011523830.1:c.1571T>A	XP_011522132.1:p.Ile524Asn
XR_934021.1:n.1776T>A
XR_934022.1:n.1682T>A
XR_934023.1:n.1682T>A
XM_006721516.3:c.1673T>A	XP_006721579.2:p.Ile558Asn
XM_011523829.2:c.1571T>A	XP_011522131.1:p.Ile524Asn
XM_011523830.2:c.1571T>A	XP_011522132.1:p.Ile524Asn
XM_024450741.1:c.1661T>A	XP_024306509.1:p.Ile554Asn
XR_934021.2:n.1728T>A
XR_934022.2:n.1634T>A
XR_934023.2:n.1634T>A
NM_000018.4:c.1673T>A MANE Select	NP_000009.1:p.Ile558Asn
NM_001033859.3:c.1607T>A	NP_001029031.1:p.Ile536Asn
NM_001270447.2:c.1742T>A	NP_001257376.1:p.Ile581Asn
NM_001270448.2:c.1445T>A	NP_001257377.1:p.Ile482Asn