Canonical Allele Identifier: CA397725765

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128018T>C (hg19) ; chr17:g.7224699T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224699T>C , CM000679.2:g.7224699T>C	GRCh38
NC_000017.10:g.7128018T>C , CM000679.1:g.7128018T>C	GRCh37
NC_000017.9:g.7068742T>C	NCBI36
NG_007975.1:g.9866T>C
NG_008391.2:g.352A>G
NG_033038.1:g.14846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1736T>C MANE Select	ENSP00000349297.5:p.Val579Ala
ENST00000322910.9:c.*1691T>C	ENSP00000325395.5:n.*1691T>C
ENST00000350303.9:c.1670T>C	ENSP00000344152.5:p.Val557Ala
ENST00000356839.9:c.1736T>C	ENSP00000349297.5:p.Val579Ala
ENST00000542255.6:c.537-16T>C
ENST00000543245.6:c.1805T>C	ENSP00000438689.2:p.Val602Ala
ENST00000578033.1:n.67T>C
ENST00000578319.5:n.317T>C
ENST00000578711.1:n.1195T>C
ENST00000578809.5:n.308T>C
ENST00000579425.5:n.852T>C
ENST00000579546.1:c.471T>C
ENST00000583074.5:n.300-16T>C
ENST00000583848.5:c.102T>C	ENSP00000466487.1:p.Gly34=
ENST00000583850.5:n.507T>C
ENST00000583858.5:c.667T>C
ENST00000585203.6:n.927T>C
NM_000018.3:c.1736T>C	NP_000009.1:p.Val579Ala
NM_001033859.2:c.1670T>C	NP_001029031.1:p.Val557Ala
NM_001270447.1:c.1805T>C	NP_001257376.1:p.Val602Ala
NM_001270448.1:c.1508T>C	NP_001257377.1:p.Val503Ala
XM_006721516.2:c.1679-16T>C	XP_006721579.2:n.1679-16T>C
XM_011523829.1:c.1577-16T>C	XP_011522131.1:n.1577-16T>C
XM_011523830.1:c.1634T>C	XP_011522132.1:p.Val545Ala
XR_934021.1:n.1839T>C
XR_934022.1:n.1745T>C
XR_934023.1:n.1688-16T>C
XM_006721516.3:c.1679-16T>C	XP_006721579.2:n.1679-16T>C
XM_011523829.2:c.1577-16T>C	XP_011522131.1:n.1577-16T>C
XM_011523830.2:c.1634T>C	XP_011522132.1:p.Val545Ala
XM_024450741.1:c.1724T>C	XP_024306509.1:p.Val575Ala
XR_934021.2:n.1791T>C
XR_934022.2:n.1697T>C
XR_934023.2:n.1640-16T>C
NM_000018.4:c.1736T>C MANE Select	NP_000009.1:p.Val579Ala
NM_001033859.3:c.1670T>C	NP_001029031.1:p.Val557Ala
NM_001270447.2:c.1805T>C	NP_001257376.1:p.Val602Ala
NM_001270448.2:c.1508T>C	NP_001257377.1:p.Val503Ala