Canonical Allele Identifier: CA497694434

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127974G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224655G>C , CM000679.2:g.7224655G>C	GRCh38
NC_000017.10:g.7127974G>C , CM000679.1:g.7127974G>C	GRCh37
NC_000017.9:g.7068698G>C	NCBI36
NG_007975.1:g.9822G>C
NG_008391.2:g.396C>G
NG_033038.1:g.14890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1692G>C MANE Select	ENSP00000349297.5:p.Leu564=
ENST00000322910.9:c.*1647G>C	ENSP00000325395.5:n.*1647G>C
ENST00000350303.9:c.1626G>C	ENSP00000344152.5:p.Leu542=
ENST00000356839.9:c.1692G>C	ENSP00000349297.5:p.Leu564=
ENST00000542255.6:c.537-60G>C
ENST00000543245.6:c.1761G>C	ENSP00000438689.2:p.Leu587=
ENST00000578033.1:n.23G>C
ENST00000578319.5:n.273G>C
ENST00000578711.1:n.1151G>C
ENST00000578809.5:n.264G>C
ENST00000579425.5:n.808G>C
ENST00000579546.1:c.427G>C
ENST00000582450.1:n.289G>C
ENST00000583074.5:n.300-60G>C
ENST00000583848.5:c.65-7G>C	ENSP00000466487.1:n.65-7G>C
ENST00000583850.5:n.463G>C
ENST00000583858.5:c.623G>C
ENST00000585203.6:n.883G>C
NM_000018.3:c.1692G>C	NP_000009.1:p.Leu564=
NM_001033859.2:c.1626G>C	NP_001029031.1:p.Leu542=
NM_001270447.1:c.1761G>C	NP_001257376.1:p.Leu587=
NM_001270448.1:c.1464G>C	NP_001257377.1:p.Leu488=
XM_006721516.2:c.1679-60G>C	XP_006721579.2:n.1679-60G>C
XM_011523829.1:c.1577-60G>C	XP_011522131.1:n.1577-60G>C
XM_011523830.1:c.1590G>C	XP_011522132.1:p.Leu530=
XR_934021.1:n.1795G>C
XR_934022.1:n.1701G>C
XR_934023.1:n.1688-60G>C
XM_006721516.3:c.1679-60G>C	XP_006721579.2:n.1679-60G>C
XM_011523829.2:c.1577-60G>C	XP_011522131.1:n.1577-60G>C
XM_011523830.2:c.1590G>C	XP_011522132.1:p.Leu530=
XM_024450741.1:c.1680G>C	XP_024306509.1:p.Leu560=
XR_934021.2:n.1747G>C
XR_934022.2:n.1653G>C
XR_934023.2:n.1640-60G>C
NM_000018.4:c.1692G>C MANE Select	NP_000009.1:p.Leu564=
NM_001033859.3:c.1626G>C	NP_001029031.1:p.Leu542=
NM_001270447.2:c.1761G>C	NP_001257376.1:p.Leu587=
NM_001270448.2:c.1464G>C	NP_001257377.1:p.Leu488=