Canonical Allele Identifier: CA410689820

Gene: COMT

Linked Data

• dbSNP Id: rs1181546591
• gnomAD v2: 22-19951778-G-A
• gnomAD v4: 22-19964255-G-A
• MyVariant Identifiers: chr22:g.19951778G>A (hg19) ; chr22:g.19964255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964255G>A , CM000684.2:g.19964255G>A	GRCh38
NC_000022.10:g.19951778G>A , CM000684.1:g.19951778G>A	GRCh37
NC_000022.9:g.18331778G>A	NCBI36
NG_011526.1:g.27516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.571G>A MANE Select	ENSP00000354511.6:p.Asp191Asn
ENST00000428707.2:c.571G>A	ENSP00000387695.2:p.Asp191Asn
ENST00000676678.1:c.571G>A	ENSP00000503719.1:p.Asp191Asn
ENST00000677397.1:c.421G>A	ENSP00000503422.1:p.Asp141Asn
ENST00000677470.1:n.421G>A
ENST00000677564.1:n.354G>A
ENST00000677675.1:n.371G>A
ENST00000678240.1:n.419G>A
ENST00000678255.1:c.571G>A	ENSP00000504402.1:p.Asp191Asn
ENST00000678769.1:c.571G>A	ENSP00000503289.1:p.Asp191Asn
ENST00000678868.1:c.571G>A	ENSP00000503583.1:p.Asp191Asn
ENST00000678945.1:n.439G>A
ENST00000207636.9:c.*29G>A	ENSP00000207636.5:n.*29G>A
ENST00000361682.10:c.571G>A	ENSP00000354511.6:p.Asp191Asn
ENST00000403184.5:c.571G>A	ENSP00000383966.1:p.Asp191Asn
ENST00000403710.5:c.571G>A	ENSP00000385917.1:p.Asp191Asn
ENST00000406520.7:c.571G>A	ENSP00000385150.3:p.Asp191Asn
ENST00000407537.5:c.571G>A	ENSP00000384654.2:p.Asp191Asn
ENST00000412786.5:c.571G>A	ENSP00000403958.1:p.Asp191Asn
ENST00000428707.1:c.149G>A
ENST00000449653.5:c.421G>A	ENSP00000416778.1:p.Asp141Asn
ENST00000493893.1:n.309G>A
NM_000754.3:c.571G>A	NP_000745.1:p.Asp191Asn
NM_001135161.1:c.571G>A	NP_001128633.1:p.Asp191Asn
NM_001135162.1:c.571G>A	NP_001128634.1:p.Asp191Asn
NM_007310.2:c.421G>A	NP_009294.1:p.Asp141Asn
XM_011529885.1:c.685G>A	XP_011528187.1:p.Asp229Asn
XM_011529886.1:c.685G>A	XP_011528188.1:p.Asp229Asn
XM_011529887.1:c.571G>A	XP_011528189.1:p.Asp191Asn
XM_011529888.1:c.571G>A	XP_011528190.1:p.Asp191Asn
XM_011529889.1:c.571G>A	XP_011528191.1:p.Asp191Asn
XM_011529890.1:c.571G>A	XP_011528192.1:p.Asp191Asn
XM_011529891.1:c.571G>A	XP_011528193.1:p.Asp191Asn
NM_001362828.1:c.571G>A	NP_001349757.1:p.Asp191Asn
XM_011529886.2:c.982G>A	XP_011528188.2:p.Asp328Asn
XM_017028595.1:c.571G>A	XP_016884084.1:p.Asp191Asn
NM_000754.4:c.571G>A MANE Select	NP_000745.1:p.Asp191Asn
NM_001135161.2:c.571G>A	NP_001128633.1:p.Asp191Asn
NM_001135162.2:c.571G>A	NP_001128634.1:p.Asp191Asn
NM_001362828.2:c.571G>A	NP_001349757.1:p.Asp191Asn
NM_007310.3:c.421G>A	NP_009294.1:p.Asp141Asn