Canonical Allele Identifier: CA397726012

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128289T>G (hg19) ; chr17:g.7224970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224970T>G , CM000679.2:g.7224970T>G	GRCh38
NC_000017.10:g.7128289T>G , CM000679.1:g.7128289T>G	GRCh37
NC_000017.9:g.7069013T>G	NCBI36
NG_007975.1:g.10137T>G
NG_008391.2:g.81A>C
NG_033038.1:g.14575A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1841T>G MANE Select	ENSP00000349297.5:p.Ile614Ser
ENST00000322910.9:c.*1796T>G	ENSP00000325395.5:n.*1796T>G
ENST00000350303.9:c.1775T>G	ENSP00000344152.5:p.Ile592Ser
ENST00000356839.9:c.1841T>G	ENSP00000349297.5:p.Ile614Ser
ENST00000542255.6:c.720T>G
ENST00000543245.6:c.1910T>G	ENSP00000438689.2:p.Ile637Ser
ENST00000578033.1:n.266T>G
ENST00000578319.5:n.422T>G
ENST00000578711.1:n.1466T>G
ENST00000578809.5:n.413T>G
ENST00000579425.5:n.957T>G
ENST00000579546.1:c.576T>G
ENST00000583848.5:c.207T>G	ENSP00000466487.1:n.207T>G
ENST00000583850.5:n.612T>G
ENST00000583858.5:c.772T>G
NM_000018.3:c.1841T>G	NP_000009.1:p.Ile614Ser
NM_001033859.2:c.1775T>G	NP_001029031.1:p.Ile592Ser
NM_001270447.1:c.1910T>G	NP_001257376.1:p.Ile637Ser
NM_001270448.1:c.1613T>G	NP_001257377.1:p.Ile538Ser
XM_006721516.2:c.1862T>G	XP_006721579.2:p.Ile621Ser
XM_011523829.1:c.1760T>G	XP_011522131.1:p.Ile587Ser
XM_011523830.1:c.1739T>G	XP_011522132.1:p.Ile580Ser
XR_934021.1:n.1944T>G
XR_934022.1:n.1850T>G
XR_934023.1:n.1871T>G
XM_006721516.3:c.1862T>G	XP_006721579.2:p.Ile621Ser
XM_011523829.2:c.1760T>G	XP_011522131.1:p.Ile587Ser
XM_011523830.2:c.1739T>G	XP_011522132.1:p.Ile580Ser
XM_024450741.1:c.1829T>G	XP_024306509.1:p.Ile610Ser
XR_934021.2:n.1896T>G
XR_934022.2:n.1802T>G
XR_934023.2:n.1823T>G
NM_000018.4:c.1841T>G MANE Select	NP_000009.1:p.Ile614Ser
NM_001033859.3:c.1775T>G	NP_001029031.1:p.Ile592Ser
NM_001270447.2:c.1910T>G	NP_001257376.1:p.Ile637Ser
NM_001270448.2:c.1613T>G	NP_001257377.1:p.Ile538Ser