Canonical Allele Identifier: CA920337045

Gene: COMT

Linked Data

• dbSNP Id: rs1569134100

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964207del , CM000684.2:g.19964207del	GRCh38
NC_000022.10:g.19951730del , CM000684.1:g.19951730del	GRCh37
NC_000022.9:g.18331730del	NCBI36
NG_011526.1:g.27468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.523del MANE Select	ENSP00000354511.6:p.Gln175SerfsTer2
ENST00000428707.2:c.523del	ENSP00000387695.2:p.Gln175SerfsTer2
ENST00000676678.1:c.523del	ENSP00000503719.1:p.Gln175SerfsTer2
ENST00000677397.1:c.373del	ENSP00000503422.1:p.Gln125SerfsTer2
ENST00000677470.1:n.373del
ENST00000677564.1:n.306del
ENST00000677675.1:n.323del
ENST00000678240.1:n.371del
ENST00000678255.1:c.523del	ENSP00000504402.1:p.Gln175SerfsTer2
ENST00000678769.1:c.523del	ENSP00000503289.1:p.Gln175SerfsTer2
ENST00000678868.1:c.523del	ENSP00000503583.1:p.Gln175SerfsTer2
ENST00000678945.1:n.391del
ENST00000207636.9:c.581del	ENSP00000207636.5:p.Pro194GlnfsTer?
ENST00000361682.10:c.523del	ENSP00000354511.6:p.Gln175SerfsTer2
ENST00000403184.5:c.523del	ENSP00000383966.1:p.Gln175SerfsTer2
ENST00000403710.5:c.523del	ENSP00000385917.1:p.Gln175SerfsTer2
ENST00000406520.7:c.523del	ENSP00000385150.3:p.Gln175SerfsTer2
ENST00000407537.5:c.523del	ENSP00000384654.2:p.Gln175SerfsTer2
ENST00000412786.5:c.523del	ENSP00000403958.1:p.Gln175SerfsTer2
ENST00000428707.1:c.101del
ENST00000449653.5:c.373del	ENSP00000416778.1:p.Gln125SerfsTer2
ENST00000493893.1:n.261del
NM_000754.3:c.523del	NP_000745.1:p.Gln175SerfsTer2
NM_001135161.1:c.523del	NP_001128633.1:p.Gln175SerfsTer2
NM_001135162.1:c.523del	NP_001128634.1:p.Gln175SerfsTer2
NM_007310.2:c.373del	NP_009294.1:p.Gln125SerfsTer2
XM_011529885.1:c.637del	XP_011528187.1:p.Gln213SerfsTer2
XM_011529886.1:c.637del	XP_011528188.1:p.Gln213SerfsTer2
XM_011529887.1:c.523del	XP_011528189.1:p.Gln175SerfsTer2
XM_011529888.1:c.523del	XP_011528190.1:p.Gln175SerfsTer2
XM_011529889.1:c.523del	XP_011528191.1:p.Gln175SerfsTer2
XM_011529890.1:c.523del	XP_011528192.1:p.Gln175SerfsTer2
XM_011529891.1:c.523del	XP_011528193.1:p.Gln175SerfsTer2
NM_001362828.1:c.523del	NP_001349757.1:p.Gln175SerfsTer2
XM_011529886.2:c.934del	XP_011528188.2:p.Gln312SerfsTer2
XM_017028595.1:c.523del	XP_016884084.1:p.Gln175SerfsTer2
NM_000754.4:c.523del MANE Select	NP_000745.1:p.Gln175SerfsTer2
NM_001135161.2:c.523del	NP_001128633.1:p.Gln175SerfsTer2
NM_001135162.2:c.523del	NP_001128634.1:p.Gln175SerfsTer2
NM_001362828.2:c.523del	NP_001349757.1:p.Gln175SerfsTer2
NM_007310.3:c.373del	NP_009294.1:p.Gln125SerfsTer2