Canonical Allele Identifier: CA497694431

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2819185
• ClinVar RCV Id: RCV003601664
• MyVariant Identifiers: chr17:g.7128197T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224878T>C , CM000679.2:g.7224878T>C	GRCh38
NC_000017.10:g.7128197T>C , CM000679.1:g.7128197T>C	GRCh37
NC_000017.9:g.7068921T>C	NCBI36
NG_007975.1:g.10045T>C
NG_008391.2:g.173A>G
NG_033038.1:g.14667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1821T>C MANE Select	ENSP00000349297.5:p.Cys607=
ENST00000322910.9:c.*1776T>C	ENSP00000325395.5:n.*1776T>C
ENST00000350303.9:c.1755T>C	ENSP00000344152.5:p.Cys585=
ENST00000356839.9:c.1821T>C	ENSP00000349297.5:p.Cys607=
ENST00000542255.6:c.700T>C
ENST00000543245.6:c.1890T>C	ENSP00000438689.2:p.Cys630=
ENST00000578033.1:n.246T>C
ENST00000578319.5:n.402T>C
ENST00000578711.1:n.1374T>C
ENST00000578809.5:n.393T>C
ENST00000579425.5:n.937T>C
ENST00000579546.1:c.556T>C
ENST00000583848.5:c.187T>C	ENSP00000466487.1:n.187T>C
ENST00000583850.5:n.592T>C
ENST00000583858.5:c.752T>C
NM_000018.3:c.1821T>C	NP_000009.1:p.Cys607=
NM_001033859.2:c.1755T>C	NP_001029031.1:p.Cys585=
NM_001270447.1:c.1890T>C	NP_001257376.1:p.Cys630=
NM_001270448.1:c.1593T>C	NP_001257377.1:p.Cys531=
XM_006721516.2:c.1842T>C	XP_006721579.2:p.Cys614=
XM_011523829.1:c.1740T>C	XP_011522131.1:p.Cys580=
XM_011523830.1:c.1719T>C	XP_011522132.1:p.Cys573=
XR_934021.1:n.1924T>C
XR_934022.1:n.1830T>C
XR_934023.1:n.1851T>C
XM_006721516.3:c.1842T>C	XP_006721579.2:p.Cys614=
XM_011523829.2:c.1740T>C	XP_011522131.1:p.Cys580=
XM_011523830.2:c.1719T>C	XP_011522132.1:p.Cys573=
XM_024450741.1:c.1809T>C	XP_024306509.1:p.Cys603=
XR_934021.2:n.1876T>C
XR_934022.2:n.1782T>C
XR_934023.2:n.1803T>C
NM_000018.4:c.1821T>C MANE Select	NP_000009.1:p.Cys607=
NM_001033859.3:c.1755T>C	NP_001029031.1:p.Cys585=
NM_001270447.2:c.1890T>C	NP_001257376.1:p.Cys630=
NM_001270448.2:c.1593T>C	NP_001257377.1:p.Cys531=