Canonical Allele Identifier: CA513361957

Gene: COMT

Linked Data

• ClinVar Variation Id: 829765
• ClinVar RCV Id: RCV001029696
• dbSNP Id: rs1601529164
• MyVariant Identifiers: chr22:g.19951133C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19963610C>T , CM000684.2:g.19963610C>T	GRCh38
NC_000022.10:g.19951133C>T , CM000684.1:g.19951133C>T	GRCh37
NC_000022.9:g.18331133C>T	NCBI36
NG_011526.1:g.26871C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.334C>T MANE Select	ENSP00000354511.6:p.Leu112=
ENST00000428707.2:c.334C>T	ENSP00000387695.2:p.Leu112=
ENST00000676678.1:c.334C>T	ENSP00000503719.1:p.Leu112=
ENST00000677397.1:c.184C>T	ENSP00000503422.1:p.Leu62=
ENST00000677564.1:n.117C>T
ENST00000677675.1:n.134C>T
ENST00000678240.1:n.182C>T
ENST00000678255.1:c.334C>T	ENSP00000504402.1:p.Leu112=
ENST00000678769.1:c.334C>T	ENSP00000503289.1:p.Leu112=
ENST00000678868.1:c.334C>T	ENSP00000503583.1:p.Leu112=
ENST00000678945.1:n.144C>T
ENST00000207636.9:c.334C>T	ENSP00000207636.5:p.Leu112=
ENST00000361682.10:c.334C>T	ENSP00000354511.6:p.Leu112=
ENST00000403184.5:c.334C>T	ENSP00000383966.1:p.Leu112=
ENST00000403710.5:c.334C>T	ENSP00000385917.1:p.Leu112=
ENST00000406520.7:c.334C>T	ENSP00000385150.3:p.Leu112=
ENST00000407537.5:c.334C>T	ENSP00000384654.2:p.Leu112=
ENST00000412786.5:c.334C>T	ENSP00000403958.1:p.Leu112=
ENST00000449653.5:c.184C>T	ENSP00000416778.1:p.Leu62=
ENST00000493893.1:n.72C>T
NM_000754.3:c.334C>T	NP_000745.1:p.Leu112=
NM_001135161.1:c.334C>T	NP_001128633.1:p.Leu112=
NM_001135162.1:c.334C>T	NP_001128634.1:p.Leu112=
NM_007310.2:c.184C>T	NP_009294.1:p.Leu62=
XM_011529885.1:c.448C>T	XP_011528187.1:p.Leu150=
XM_011529886.1:c.448C>T	XP_011528188.1:p.Leu150=
XM_011529887.1:c.334C>T	XP_011528189.1:p.Leu112=
XM_011529888.1:c.334C>T	XP_011528190.1:p.Leu112=
XM_011529889.1:c.334C>T	XP_011528191.1:p.Leu112=
XM_011529890.1:c.334C>T	XP_011528192.1:p.Leu112=
XM_011529891.1:c.334C>T	XP_011528193.1:p.Leu112=
NM_001362828.1:c.334C>T	NP_001349757.1:p.Leu112=
XM_011529886.2:c.745C>T	XP_011528188.2:p.Leu249=
XM_017028595.1:c.334C>T	XP_016884084.1:p.Leu112=
NM_000754.4:c.334C>T MANE Select	NP_000745.1:p.Leu112=
NM_001135161.2:c.334C>T	NP_001128633.1:p.Leu112=
NM_001135162.2:c.334C>T	NP_001128634.1:p.Leu112=
NM_001362828.2:c.334C>T	NP_001349757.1:p.Leu112=
NM_007310.3:c.184C>T	NP_009294.1:p.Leu62=