Canonical Allele Identifier: CA497694270

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128019G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224700G>C , CM000679.2:g.7224700G>C	GRCh38
NC_000017.10:g.7128019G>C , CM000679.1:g.7128019G>C	GRCh37
NC_000017.9:g.7068743G>C	NCBI36
NG_007975.1:g.9867G>C
NG_008391.2:g.351C>G
NG_033038.1:g.14845C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1737G>C MANE Select	ENSP00000349297.5:p.Val579=
ENST00000322910.9:c.*1692G>C	ENSP00000325395.5:n.*1692G>C
ENST00000350303.9:c.1671G>C	ENSP00000344152.5:p.Val557=
ENST00000356839.9:c.1737G>C	ENSP00000349297.5:p.Val579=
ENST00000542255.6:c.537-15G>C
ENST00000543245.6:c.1806G>C	ENSP00000438689.2:p.Val602=
ENST00000578033.1:n.68G>C
ENST00000578319.5:n.318G>C
ENST00000578711.1:n.1196G>C
ENST00000578809.5:n.309G>C
ENST00000579425.5:n.853G>C
ENST00000579546.1:c.472G>C
ENST00000583074.5:n.300-15G>C
ENST00000583848.5:c.103G>C	ENSP00000466487.1:p.Gly35Arg
ENST00000583850.5:n.508G>C
ENST00000583858.5:c.668G>C
ENST00000585203.6:n.928G>C
NM_000018.3:c.1737G>C	NP_000009.1:p.Val579=
NM_001033859.2:c.1671G>C	NP_001029031.1:p.Val557=
NM_001270447.1:c.1806G>C	NP_001257376.1:p.Val602=
NM_001270448.1:c.1509G>C	NP_001257377.1:p.Val503=
XM_006721516.2:c.1679-15G>C	XP_006721579.2:n.1679-15G>C
XM_011523829.1:c.1577-15G>C	XP_011522131.1:n.1577-15G>C
XM_011523830.1:c.1635G>C	XP_011522132.1:p.Val545=
XR_934021.1:n.1840G>C
XR_934022.1:n.1746G>C
XR_934023.1:n.1688-15G>C
XM_006721516.3:c.1679-15G>C	XP_006721579.2:n.1679-15G>C
XM_011523829.2:c.1577-15G>C	XP_011522131.1:n.1577-15G>C
XM_011523830.2:c.1635G>C	XP_011522132.1:p.Val545=
XM_024450741.1:c.1725G>C	XP_024306509.1:p.Val575=
XR_934021.2:n.1792G>C
XR_934022.2:n.1698G>C
XR_934023.2:n.1640-15G>C
NM_000018.4:c.1737G>C MANE Select	NP_000009.1:p.Val579=
NM_001033859.3:c.1671G>C	NP_001029031.1:p.Val557=
NM_001270447.2:c.1806G>C	NP_001257376.1:p.Val602=
NM_001270448.2:c.1509G>C	NP_001257377.1:p.Val503=