Canonical Allele Identifier: CA10104490

Gene: COMT

Linked Data

• dbSNP Id: rs760899191
• ExAC: 22:19950276 T / A
• gnomAD v2: 22-19950276-T-A
• MyVariant Identifiers: chr22:g.19950276T>A (hg19) ; chr22:g.19962753T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19962753T>A , CM000684.2:g.19962753T>A	GRCh38
NC_000022.10:g.19950276T>A , CM000684.1:g.19950276T>A	GRCh37
NC_000022.9:g.18330276T>A	NCBI36
NG_011526.1:g.26014T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.227T>A MANE Select	ENSP00000354511.6:p.Leu76Gln
ENST00000428707.2:c.227T>A	ENSP00000387695.2:p.Leu76Gln
ENST00000676678.1:c.227T>A	ENSP00000503719.1:p.Leu76Gln
ENST00000677397.1:c.77T>A	ENSP00000503422.1:p.Leu26Gln
ENST00000678240.1:n.75T>A
ENST00000678255.1:c.227T>A	ENSP00000504402.1:p.Leu76Gln
ENST00000678769.1:c.227T>A	ENSP00000503289.1:p.Leu76Gln
ENST00000678868.1:c.227T>A	ENSP00000503583.1:p.Leu76Gln
ENST00000207636.9:c.227T>A	ENSP00000207636.5:p.Leu76Gln
ENST00000361682.10:c.227T>A	ENSP00000354511.6:p.Leu76Gln
ENST00000403184.5:c.227T>A	ENSP00000383966.1:p.Leu76Gln
ENST00000403710.5:c.227T>A	ENSP00000385917.1:p.Leu76Gln
ENST00000406520.7:c.227T>A	ENSP00000385150.3:p.Leu76Gln
ENST00000407537.5:c.227T>A	ENSP00000384654.2:p.Leu76Gln
ENST00000412786.5:c.227T>A	ENSP00000403958.1:p.Leu76Gln
ENST00000449653.5:c.77T>A	ENSP00000416778.1:p.Leu26Gln
ENST00000467943.5:n.423T>A
NM_000754.3:c.227T>A	NP_000745.1:p.Leu76Gln
NM_001135161.1:c.227T>A	NP_001128633.1:p.Leu76Gln
NM_001135162.1:c.227T>A	NP_001128634.1:p.Leu76Gln
NM_007310.2:c.77T>A	NP_009294.1:p.Leu26Gln
XM_011529885.1:c.341T>A	XP_011528187.1:p.Leu114Gln
XM_011529886.1:c.341T>A	XP_011528188.1:p.Leu114Gln
XM_011529887.1:c.227T>A	XP_011528189.1:p.Leu76Gln
XM_011529888.1:c.227T>A	XP_011528190.1:p.Leu76Gln
XM_011529889.1:c.227T>A	XP_011528191.1:p.Leu76Gln
XM_011529890.1:c.227T>A	XP_011528192.1:p.Leu76Gln
XM_011529891.1:c.227T>A	XP_011528193.1:p.Leu76Gln
NM_001362828.1:c.227T>A	NP_001349757.1:p.Leu76Gln
XM_011529886.2:c.638T>A	XP_011528188.2:p.Leu213Gln
XM_017028595.1:c.227T>A	XP_016884084.1:p.Leu76Gln
NM_000754.4:c.227T>A MANE Select	NP_000745.1:p.Leu76Gln
NM_001135161.2:c.227T>A	NP_001128633.1:p.Leu76Gln
NM_001135162.2:c.227T>A	NP_001128634.1:p.Leu76Gln
NM_001362828.2:c.227T>A	NP_001349757.1:p.Leu76Gln
NM_007310.3:c.77T>A	NP_009294.1:p.Leu26Gln