Canonical Allele Identifier: CA397726009

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128288A>T (hg19) ; chr17:g.7224969A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224969A>T , CM000679.2:g.7224969A>T	GRCh38
NC_000017.10:g.7128288A>T , CM000679.1:g.7128288A>T	GRCh37
NC_000017.9:g.7069012A>T	NCBI36
NG_007975.1:g.10136A>T
NG_008391.2:g.82T>A
NG_033038.1:g.14576T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1840A>T MANE Select	ENSP00000349297.5:p.Ile614Phe
ENST00000322910.9:c.*1795A>T	ENSP00000325395.5:n.*1795A>T
ENST00000350303.9:c.1774A>T	ENSP00000344152.5:p.Ile592Phe
ENST00000356839.9:c.1840A>T	ENSP00000349297.5:p.Ile614Phe
ENST00000542255.6:c.719A>T
ENST00000543245.6:c.1909A>T	ENSP00000438689.2:p.Ile637Phe
ENST00000578033.1:n.265A>T
ENST00000578319.5:n.421A>T
ENST00000578711.1:n.1465A>T
ENST00000578809.5:n.412A>T
ENST00000579425.5:n.956A>T
ENST00000579546.1:c.575A>T
ENST00000583848.5:c.206A>T	ENSP00000466487.1:n.206A>T
ENST00000583850.5:n.611A>T
ENST00000583858.5:c.771A>T
NM_000018.3:c.1840A>T	NP_000009.1:p.Ile614Phe
NM_001033859.2:c.1774A>T	NP_001029031.1:p.Ile592Phe
NM_001270447.1:c.1909A>T	NP_001257376.1:p.Ile637Phe
NM_001270448.1:c.1612A>T	NP_001257377.1:p.Ile538Phe
XM_006721516.2:c.1861A>T	XP_006721579.2:p.Ile621Phe
XM_011523829.1:c.1759A>T	XP_011522131.1:p.Ile587Phe
XM_011523830.1:c.1738A>T	XP_011522132.1:p.Ile580Phe
XR_934021.1:n.1943A>T
XR_934022.1:n.1849A>T
XR_934023.1:n.1870A>T
XM_006721516.3:c.1861A>T	XP_006721579.2:p.Ile621Phe
XM_011523829.2:c.1759A>T	XP_011522131.1:p.Ile587Phe
XM_011523830.2:c.1738A>T	XP_011522132.1:p.Ile580Phe
XM_024450741.1:c.1828A>T	XP_024306509.1:p.Ile610Phe
XR_934021.2:n.1895A>T
XR_934022.2:n.1801A>T
XR_934023.2:n.1822A>T
NM_000018.4:c.1840A>T MANE Select	NP_000009.1:p.Ile614Phe
NM_001033859.3:c.1774A>T	NP_001029031.1:p.Ile592Phe
NM_001270447.2:c.1909A>T	NP_001257376.1:p.Ile637Phe
NM_001270448.2:c.1612A>T	NP_001257377.1:p.Ile538Phe