Canonical Allele Identifier: CA397725677

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127976T>A (hg19) ; chr17:g.7224657T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224657T>A , CM000679.2:g.7224657T>A	GRCh38
NC_000017.10:g.7127976T>A , CM000679.1:g.7127976T>A	GRCh37
NC_000017.9:g.7068700T>A	NCBI36
NG_007975.1:g.9824T>A
NG_008391.2:g.394A>T
NG_033038.1:g.14888A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1694T>A MANE Select	ENSP00000349297.5:p.Leu565Gln
ENST00000322910.9:c.*1649T>A	ENSP00000325395.5:n.*1649T>A
ENST00000350303.9:c.1628T>A	ENSP00000344152.5:p.Leu543Gln
ENST00000356839.9:c.1694T>A	ENSP00000349297.5:p.Leu565Gln
ENST00000542255.6:c.537-58T>A
ENST00000543245.6:c.1763T>A	ENSP00000438689.2:p.Leu588Gln
ENST00000578033.1:n.25T>A
ENST00000578319.5:n.275T>A
ENST00000578711.1:n.1153T>A
ENST00000578809.5:n.266T>A
ENST00000579425.5:n.810T>A
ENST00000579546.1:c.429T>A
ENST00000582450.1:n.291T>A
ENST00000583074.5:n.300-58T>A
ENST00000583848.5:c.65-5T>A	ENSP00000466487.1:n.65-5T>A
ENST00000583850.5:n.465T>A
ENST00000583858.5:c.625T>A
ENST00000585203.6:n.885T>A
NM_000018.3:c.1694T>A	NP_000009.1:p.Leu565Gln
NM_001033859.2:c.1628T>A	NP_001029031.1:p.Leu543Gln
NM_001270447.1:c.1763T>A	NP_001257376.1:p.Leu588Gln
NM_001270448.1:c.1466T>A	NP_001257377.1:p.Leu489Gln
XM_006721516.2:c.1679-58T>A	XP_006721579.2:n.1679-58T>A
XM_011523829.1:c.1577-58T>A	XP_011522131.1:n.1577-58T>A
XM_011523830.1:c.1592T>A	XP_011522132.1:p.Leu531Gln
XR_934021.1:n.1797T>A
XR_934022.1:n.1703T>A
XR_934023.1:n.1688-58T>A
XM_006721516.3:c.1679-58T>A	XP_006721579.2:n.1679-58T>A
XM_011523829.2:c.1577-58T>A	XP_011522131.1:n.1577-58T>A
XM_011523830.2:c.1592T>A	XP_011522132.1:p.Leu531Gln
XM_024450741.1:c.1682T>A	XP_024306509.1:p.Leu561Gln
XR_934021.2:n.1749T>A
XR_934022.2:n.1655T>A
XR_934023.2:n.1640-58T>A
NM_000018.4:c.1694T>A MANE Select	NP_000009.1:p.Leu565Gln
NM_001033859.3:c.1628T>A	NP_001029031.1:p.Leu543Gln
NM_001270447.2:c.1763T>A	NP_001257376.1:p.Leu588Gln
NM_001270448.2:c.1466T>A	NP_001257377.1:p.Leu489Gln