Canonical Allele Identifier: CA410689823

Gene: COMT

Linked Data

• MyVariant Identifiers: chr22:g.19951779A>C (hg19) ; chr22:g.19964256A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964256A>C , CM000684.2:g.19964256A>C	GRCh38
NC_000022.10:g.19951779A>C , CM000684.1:g.19951779A>C	GRCh37
NC_000022.9:g.18331779A>C	NCBI36
NG_011526.1:g.27517A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.572A>C MANE Select	ENSP00000354511.6:p.Asp191Ala
ENST00000428707.2:c.572A>C	ENSP00000387695.2:p.Asp191Ala
ENST00000676678.1:c.572A>C	ENSP00000503719.1:p.Asp191Ala
ENST00000677397.1:c.422A>C	ENSP00000503422.1:p.Asp141Ala
ENST00000677470.1:n.422A>C
ENST00000677564.1:n.355A>C
ENST00000677675.1:n.372A>C
ENST00000678240.1:n.420A>C
ENST00000678255.1:c.572A>C	ENSP00000504402.1:p.Asp191Ala
ENST00000678769.1:c.572A>C	ENSP00000503289.1:p.Asp191Ala
ENST00000678868.1:c.572A>C	ENSP00000503583.1:p.Asp191Ala
ENST00000678945.1:n.440A>C
ENST00000207636.9:c.*30A>C	ENSP00000207636.5:n.*30A>C
ENST00000361682.10:c.572A>C	ENSP00000354511.6:p.Asp191Ala
ENST00000403184.5:c.572A>C	ENSP00000383966.1:p.Asp191Ala
ENST00000403710.5:c.572A>C	ENSP00000385917.1:p.Asp191Ala
ENST00000406520.7:c.572A>C	ENSP00000385150.3:p.Asp191Ala
ENST00000407537.5:c.572A>C	ENSP00000384654.2:p.Asp191Ala
ENST00000412786.5:c.572A>C	ENSP00000403958.1:p.Asp191Ala
ENST00000428707.1:c.150A>C
ENST00000449653.5:c.422A>C	ENSP00000416778.1:p.Asp141Ala
ENST00000493893.1:n.310A>C
NM_000754.3:c.572A>C	NP_000745.1:p.Asp191Ala
NM_001135161.1:c.572A>C	NP_001128633.1:p.Asp191Ala
NM_001135162.1:c.572A>C	NP_001128634.1:p.Asp191Ala
NM_007310.2:c.422A>C	NP_009294.1:p.Asp141Ala
XM_011529885.1:c.686A>C	XP_011528187.1:p.Asp229Ala
XM_011529886.1:c.686A>C	XP_011528188.1:p.Asp229Ala
XM_011529887.1:c.572A>C	XP_011528189.1:p.Asp191Ala
XM_011529888.1:c.572A>C	XP_011528190.1:p.Asp191Ala
XM_011529889.1:c.572A>C	XP_011528191.1:p.Asp191Ala
XM_011529890.1:c.572A>C	XP_011528192.1:p.Asp191Ala
XM_011529891.1:c.572A>C	XP_011528193.1:p.Asp191Ala
NM_001362828.1:c.572A>C	NP_001349757.1:p.Asp191Ala
XM_011529886.2:c.983A>C	XP_011528188.2:p.Asp328Ala
XM_017028595.1:c.572A>C	XP_016884084.1:p.Asp191Ala
NM_000754.4:c.572A>C MANE Select	NP_000745.1:p.Asp191Ala
NM_001135161.2:c.572A>C	NP_001128633.1:p.Asp191Ala
NM_001135162.2:c.572A>C	NP_001128634.1:p.Asp191Ala
NM_001362828.2:c.572A>C	NP_001349757.1:p.Asp191Ala
NM_007310.3:c.422A>C	NP_009294.1:p.Asp141Ala