Canonical Allele Identifier: CA10104648

Gene: COMT

Linked Data

• dbSNP Id: rs763427055
• ExAC: 22:19951794 G / A
• gnomAD v2: 22-19951794-G-A
• gnomAD v3: 22-19964271-G-A
• gnomAD v4: 22-19964271-G-A
• MyVariant Identifiers: chr22:g.19951794G>A (hg19) ; chr22:g.19964271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964271G>A , CM000684.2:g.19964271G>A	GRCh38
NC_000022.10:g.19951794G>A , CM000684.1:g.19951794G>A	GRCh37
NC_000022.9:g.18331794G>A	NCBI36
NG_011526.1:g.27532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.587G>A MANE Select	ENSP00000354511.6:p.Arg196Gln
ENST00000428707.2:c.587G>A	ENSP00000387695.2:p.Arg196Gln
ENST00000676678.1:c.587G>A	ENSP00000503719.1:p.Arg196Gln
ENST00000677397.1:c.437G>A	ENSP00000503422.1:p.Arg146Gln
ENST00000677470.1:n.437G>A
ENST00000677564.1:n.370G>A
ENST00000677675.1:n.387G>A
ENST00000678240.1:n.435G>A
ENST00000678255.1:c.587G>A	ENSP00000504402.1:p.Arg196Gln
ENST00000678769.1:c.587G>A	ENSP00000503289.1:p.Arg196Gln
ENST00000678868.1:c.587G>A	ENSP00000503583.1:p.Arg196Gln
ENST00000678945.1:n.455G>A
ENST00000207636.9:c.*45G>A	ENSP00000207636.5:n.*45G>A
ENST00000361682.10:c.587G>A	ENSP00000354511.6:p.Arg196Gln
ENST00000403184.5:c.587G>A	ENSP00000383966.1:p.Arg196Gln
ENST00000403710.5:c.587G>A	ENSP00000385917.1:p.Arg196Gln
ENST00000406520.7:c.587G>A	ENSP00000385150.3:p.Arg196Gln
ENST00000407537.5:c.587G>A	ENSP00000384654.2:p.Arg196Gln
ENST00000412786.5:c.587G>A	ENSP00000403958.1:p.Arg196Gln
ENST00000428707.1:c.165G>A
ENST00000449653.5:c.437G>A	ENSP00000416778.1:p.Arg146Gln
ENST00000493893.1:n.325G>A
NM_000754.3:c.587G>A	NP_000745.1:p.Arg196Gln
NM_001135161.1:c.587G>A	NP_001128633.1:p.Arg196Gln
NM_001135162.1:c.587G>A	NP_001128634.1:p.Arg196Gln
NM_007310.2:c.437G>A	NP_009294.1:p.Arg146Gln
XM_011529885.1:c.701G>A	XP_011528187.1:p.Arg234Gln
XM_011529886.1:c.701G>A	XP_011528188.1:p.Arg234Gln
XM_011529887.1:c.587G>A	XP_011528189.1:p.Arg196Gln
XM_011529888.1:c.587G>A	XP_011528190.1:p.Arg196Gln
XM_011529889.1:c.587G>A	XP_011528191.1:p.Arg196Gln
XM_011529890.1:c.587G>A	XP_011528192.1:p.Arg196Gln
XM_011529891.1:c.587G>A	XP_011528193.1:p.Arg196Gln
NM_001362828.1:c.587G>A	NP_001349757.1:p.Arg196Gln
XM_011529886.2:c.998G>A	XP_011528188.2:p.Arg333Gln
XM_017028595.1:c.587G>A	XP_016884084.1:p.Arg196Gln
NM_000754.4:c.587G>A MANE Select	NP_000745.1:p.Arg196Gln
NM_001135161.2:c.587G>A	NP_001128633.1:p.Arg196Gln
NM_001135162.2:c.587G>A	NP_001128634.1:p.Arg196Gln
NM_001362828.2:c.587G>A	NP_001349757.1:p.Arg196Gln
NM_007310.3:c.437G>A	NP_009294.1:p.Arg146Gln