Canonical Allele Identifier: CA1024162238

Gene: COMT

Linked Data

• dbSNP Id: rs1941777602
• gnomAD v3: 22-19943374-A-ATGTCT
• gnomAD v4: 22-19943374-A-ATGTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19943374_19943375insTGTCT , CM000684.2:g.19943374_19943375insTGTCT	GRCh38
NC_000022.10:g.19930897_19930898insTGTCT , CM000684.1:g.19930897_19930898insTGTCT	GRCh37
NC_000022.9:g.18310897_18310898insTGTCT	NCBI36
NG_011526.1:g.6635_6636insTGTCT
NG_011835.1:g.3462_3463insAGACA , LRG_417:g.3462_3463insAGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.-92+1477_-92+1478insTGTCT MANE Select	ENSP00000354511.6:n.-92+1477_-92+1478insTGTCT
ENST00000428707.2:c.-92+1477_-92+1478insTGTCT	ENSP00000387695.2:n.-92+1477_-92+1478insTGTCT
ENST00000676678.1:c.-92+1799_-92+1800insTGTCT	ENSP00000503719.1:n.-92+1799_-92+1800insTGTCT
ENST00000678769.1:c.-92+1477_-92+1478insTGTCT	ENSP00000503289.1:n.-92+1477_-92+1478insTGTCT
ENST00000678868.1:c.-276+1477_-276+1478insTGTCT	ENSP00000503583.1:n.-276+1477_-276+1478insTGTCT
ENST00000361682.10:c.-92+1477_-92+1478insTGTCT	ENSP00000354511.6:n.-92+1477_-92+1478insTGTCT
ENST00000403184.5:c.-92+1477_-92+1478insTGTCT	ENSP00000383966.1:n.-92+1477_-92+1478insTGTCT
ENST00000403710.5:c.-386+1477_-386+1478insTGTCT	ENSP00000385917.1:n.-386+1477_-386+1478insTGTCT
ENST00000407537.5:c.-270+1477_-270+1478insTGTCT	ENSP00000384654.2:n.-270+1477_-270+1478insTGTCT
ENST00000467943.5:n.105+1477_105+1478insTGTCT
NM_000754.3:c.-92+1477_-92+1478insTGTCT	NP_000745.1:n.-92+1477_-92+1478insTGTCT
XM_011529887.1:c.-92+1477_-92+1478insTGTCT	XP_011528189.1:n.-92+1477_-92+1478insTGTCT
XM_011529890.1:c.-386+1477_-386+1478insTGTCT	XP_011528192.1:n.-386+1477_-386+1478insTGTCT
XM_011529891.1:c.-386+1199_-386+1200insTGTCT	XP_011528193.1:n.-386+1199_-386+1200insTGTCT
NM_001362828.1:c.-386+1477_-386+1478insTGTCT	NP_001349757.1:n.-386+1477_-386+1478insTGTCT
XM_017028595.1:c.-386+1199_-386+1200insTGTCT	XP_016884084.1:n.-386+1199_-386+1200insTGTCT
NM_000754.4:c.-92+1477_-92+1478insTGTCT MANE Select	NP_000745.1:n.-92+1477_-92+1478insTGTCT
NM_001362828.2:c.-386+1477_-386+1478insTGTCT	NP_001349757.1:n.-386+1477_-386+1478insTGTCT