Canonical Allele Identifier: CA513688500

Gene: COMT

Linked Data

• gnomAD v4: 22-19964227-T-C
• MyVariant Identifiers: chr22:g.19951750T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19964227T>C , CM000684.2:g.19964227T>C	GRCh38
NC_000022.10:g.19951750T>C , CM000684.1:g.19951750T>C	GRCh37
NC_000022.9:g.18331750T>C	NCBI36
NG_011526.1:g.27488T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.543T>C MANE Select	ENSP00000354511.6:p.Asp181=
ENST00000428707.2:c.543T>C	ENSP00000387695.2:p.Asp181=
ENST00000676678.1:c.543T>C	ENSP00000503719.1:p.Asp181=
ENST00000677397.1:c.393T>C	ENSP00000503422.1:p.Asp131=
ENST00000677470.1:n.393T>C
ENST00000677564.1:n.326T>C
ENST00000677675.1:n.343T>C
ENST00000678240.1:n.391T>C
ENST00000678255.1:c.543T>C	ENSP00000504402.1:p.Asp181=
ENST00000678769.1:c.543T>C	ENSP00000503289.1:p.Asp181=
ENST00000678868.1:c.543T>C	ENSP00000503583.1:p.Asp181=
ENST00000678945.1:n.411T>C
ENST00000207636.9:c.*1T>C	ENSP00000207636.5:n.*1T>C
ENST00000361682.10:c.543T>C	ENSP00000354511.6:p.Asp181=
ENST00000403184.5:c.543T>C	ENSP00000383966.1:p.Asp181=
ENST00000403710.5:c.543T>C	ENSP00000385917.1:p.Asp181=
ENST00000406520.7:c.543T>C	ENSP00000385150.3:p.Asp181=
ENST00000407537.5:c.543T>C	ENSP00000384654.2:p.Asp181=
ENST00000412786.5:c.543T>C	ENSP00000403958.1:p.Asp181=
ENST00000428707.1:c.121T>C
ENST00000449653.5:c.393T>C	ENSP00000416778.1:p.Asp131=
ENST00000493893.1:n.281T>C
NM_000754.3:c.543T>C	NP_000745.1:p.Asp181=
NM_001135161.1:c.543T>C	NP_001128633.1:p.Asp181=
NM_001135162.1:c.543T>C	NP_001128634.1:p.Asp181=
NM_007310.2:c.393T>C	NP_009294.1:p.Asp131=
XM_011529885.1:c.657T>C	XP_011528187.1:p.Asp219=
XM_011529886.1:c.657T>C	XP_011528188.1:p.Asp219=
XM_011529887.1:c.543T>C	XP_011528189.1:p.Asp181=
XM_011529888.1:c.543T>C	XP_011528190.1:p.Asp181=
XM_011529889.1:c.543T>C	XP_011528191.1:p.Asp181=
XM_011529890.1:c.543T>C	XP_011528192.1:p.Asp181=
XM_011529891.1:c.543T>C	XP_011528193.1:p.Asp181=
NM_001362828.1:c.543T>C	NP_001349757.1:p.Asp181=
XM_011529886.2:c.954T>C	XP_011528188.2:p.Asp318=
XM_017028595.1:c.543T>C	XP_016884084.1:p.Asp181=
NM_000754.4:c.543T>C MANE Select	NP_000745.1:p.Asp181=
NM_001135161.2:c.543T>C	NP_001128633.1:p.Asp181=
NM_001135162.2:c.543T>C	NP_001128634.1:p.Asp181=
NM_001362828.2:c.543T>C	NP_001349757.1:p.Asp181=
NM_007310.3:c.393T>C	NP_009294.1:p.Asp131=