Canonical Allele Identifier: CA397725951

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2769300
• ClinVar RCV Id: RCV003499383
• MyVariant Identifiers: chr17:g.7128192T>C (hg19) ; chr17:g.7224873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224873T>C , CM000679.2:g.7224873T>C	GRCh38
NC_000017.10:g.7128192T>C , CM000679.1:g.7128192T>C	GRCh37
NC_000017.9:g.7068916T>C	NCBI36
NG_007975.1:g.10040T>C
NG_008391.2:g.178A>G
NG_033038.1:g.14672A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1816T>C MANE Select	ENSP00000349297.5:p.Trp606Arg
ENST00000322910.9:c.*1771T>C	ENSP00000325395.5:n.*1771T>C
ENST00000350303.9:c.1750T>C	ENSP00000344152.5:p.Trp584Arg
ENST00000356839.9:c.1816T>C	ENSP00000349297.5:p.Trp606Arg
ENST00000542255.6:c.695T>C
ENST00000543245.6:c.1885T>C	ENSP00000438689.2:p.Trp629Arg
ENST00000578033.1:n.241T>C
ENST00000578319.5:n.397T>C
ENST00000578711.1:n.1369T>C
ENST00000578809.5:n.388T>C
ENST00000579425.5:n.932T>C
ENST00000579546.1:c.551T>C
ENST00000583848.5:c.182T>C	ENSP00000466487.1:n.182T>C
ENST00000583850.5:n.587T>C
ENST00000583858.5:c.747T>C
NM_000018.3:c.1816T>C	NP_000009.1:p.Trp606Arg
NM_001033859.2:c.1750T>C	NP_001029031.1:p.Trp584Arg
NM_001270447.1:c.1885T>C	NP_001257376.1:p.Trp629Arg
NM_001270448.1:c.1588T>C	NP_001257377.1:p.Trp530Arg
XM_006721516.2:c.1837T>C	XP_006721579.2:p.Trp613Arg
XM_011523829.1:c.1735T>C	XP_011522131.1:p.Trp579Arg
XM_011523830.1:c.1714T>C	XP_011522132.1:p.Trp572Arg
XR_934021.1:n.1919T>C
XR_934022.1:n.1825T>C
XR_934023.1:n.1846T>C
XM_006721516.3:c.1837T>C	XP_006721579.2:p.Trp613Arg
XM_011523829.2:c.1735T>C	XP_011522131.1:p.Trp579Arg
XM_011523830.2:c.1714T>C	XP_011522132.1:p.Trp572Arg
XM_024450741.1:c.1804T>C	XP_024306509.1:p.Trp602Arg
XR_934021.2:n.1871T>C
XR_934022.2:n.1777T>C
XR_934023.2:n.1798T>C
NM_000018.4:c.1816T>C MANE Select	NP_000009.1:p.Trp606Arg
NM_001033859.3:c.1750T>C	NP_001029031.1:p.Trp584Arg
NM_001270447.2:c.1885T>C	NP_001257376.1:p.Trp629Arg
NM_001270448.2:c.1588T>C	NP_001257377.1:p.Trp530Arg