Canonical Allele Identifier: CA397726113

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128337T>C (hg19) ; chr17:g.7225018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225018T>C , CM000679.2:g.7225018T>C	GRCh38
NC_000017.10:g.7128337T>C , CM000679.1:g.7128337T>C	GRCh37
NC_000017.9:g.7069061T>C	NCBI36
NG_007975.1:g.10185T>C
NG_008391.2:g.33A>G
NG_033038.1:g.14527A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1889T>C MANE Select	ENSP00000349297.5:p.Leu630Pro
ENST00000322910.9:c.*1844T>C	ENSP00000325395.5:n.*1844T>C
ENST00000350303.9:c.1823T>C	ENSP00000344152.5:p.Leu608Pro
ENST00000356839.9:c.1889T>C	ENSP00000349297.5:p.Leu630Pro
ENST00000542255.6:c.768T>C
ENST00000543245.6:c.1958T>C	ENSP00000438689.2:p.Leu653Pro
ENST00000578033.1:n.314T>C
ENST00000578319.5:n.470T>C
ENST00000578711.1:n.1514T>C
ENST00000578809.5:n.461T>C
ENST00000579425.5:n.1005T>C
ENST00000583848.5:c.255T>C	ENSP00000466487.1:n.255T>C
ENST00000583850.5:n.660T>C
ENST00000583858.5:c.820T>C
NM_000018.3:c.1889T>C	NP_000009.1:p.Leu630Pro
NM_001033859.2:c.1823T>C	NP_001029031.1:p.Leu608Pro
NM_001270447.1:c.1958T>C	NP_001257376.1:p.Leu653Pro
NM_001270448.1:c.1661T>C	NP_001257377.1:p.Leu554Pro
XM_006721516.2:c.1910T>C	XP_006721579.2:p.Leu637Pro
XM_011523829.1:c.1808T>C	XP_011522131.1:p.Leu603Pro
XM_011523830.1:c.1787T>C	XP_011522132.1:p.Leu596Pro
XR_934021.1:n.1992T>C
XR_934022.1:n.1898T>C
XR_934023.1:n.1919T>C
XM_006721516.3:c.1910T>C	XP_006721579.2:p.Leu637Pro
XM_011523829.2:c.1808T>C	XP_011522131.1:p.Leu603Pro
XM_011523830.2:c.1787T>C	XP_011522132.1:p.Leu596Pro
XM_024450741.1:c.1877T>C	XP_024306509.1:p.Leu626Pro
XR_934021.2:n.1944T>C
XR_934022.2:n.1850T>C
XR_934023.2:n.1871T>C
NM_000018.4:c.1889T>C MANE Select	NP_000009.1:p.Leu630Pro
NM_001033859.3:c.1823T>C	NP_001029031.1:p.Leu608Pro
NM_001270447.2:c.1958T>C	NP_001257376.1:p.Leu653Pro
NM_001270448.2:c.1661T>C	NP_001257377.1:p.Leu554Pro