Canonical Allele Identifier: CA513688539
Gene: COMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19951817T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19964294T>C , CM000684.2:g.19964294T>C GRCh38
NC_000022.10:g.19951817T>C , CM000684.1:g.19951817T>C GRCh37
NC_000022.9:g.18331817T>C NCBI36
NG_011526.1:g.27555T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361682.11:c.610T>C MANE Select ENSP00000354511.6:p.Leu204=
ENST00000428707.2:c.610T>C ENSP00000387695.2:p.Leu204=
ENST00000676678.1:c.610T>C ENSP00000503719.1:p.Leu204=
ENST00000677397.1:c.460T>C ENSP00000503422.1:p.Leu154=
ENST00000677470.1:n.460T>C
ENST00000677564.1:n.393T>C
ENST00000677675.1:n.410T>C
ENST00000678240.1:n.458T>C
ENST00000678255.1:c.610T>C ENSP00000504402.1:p.Leu204=
ENST00000678769.1:c.610T>C ENSP00000503289.1:p.Leu204=
ENST00000678868.1:c.610T>C ENSP00000503583.1:p.Leu204=
ENST00000678945.1:n.478T>C
ENST00000207636.9:c.*68T>C ENSP00000207636.5:n.*68T>C
ENST00000361682.10:c.610T>C ENSP00000354511.6:p.Leu204=
ENST00000403184.5:c.610T>C ENSP00000383966.1:p.Leu204=
ENST00000403710.5:c.610T>C ENSP00000385917.1:p.Leu204=
ENST00000406520.7:c.610T>C ENSP00000385150.3:p.Leu204=
ENST00000407537.5:c.610T>C ENSP00000384654.2:p.Leu204=
ENST00000412786.5:c.610T>C ENSP00000403958.1:p.Leu204=
ENST00000428707.1:c.188T>C
ENST00000449653.5:c.460T>C ENSP00000416778.1:p.Leu154=
ENST00000493893.1:n.348T>C
NM_000754.3:c.610T>C NP_000745.1:p.Leu204=
NM_001135161.1:c.610T>C NP_001128633.1:p.Leu204=
NM_001135162.1:c.610T>C NP_001128634.1:p.Leu204=
NM_007310.2:c.460T>C NP_009294.1:p.Leu154=
XM_011529885.1:c.724T>C XP_011528187.1:p.Leu242=
XM_011529886.1:c.724T>C XP_011528188.1:p.Leu242=
XM_011529887.1:c.610T>C XP_011528189.1:p.Leu204=
XM_011529888.1:c.610T>C XP_011528190.1:p.Leu204=
XM_011529889.1:c.610T>C XP_011528191.1:p.Leu204=
XM_011529890.1:c.610T>C XP_011528192.1:p.Leu204=
XM_011529891.1:c.610T>C XP_011528193.1:p.Leu204=
NM_001362828.1:c.610T>C NP_001349757.1:p.Leu204=
XM_011529886.2:c.1021T>C XP_011528188.2:p.Leu341=
XM_017028595.1:c.610T>C XP_016884084.1:p.Leu204=
NM_000754.4:c.610T>C MANE Select NP_000745.1:p.Leu204=
NM_001135161.2:c.610T>C NP_001128633.1:p.Leu204=
NM_001135162.2:c.610T>C NP_001128634.1:p.Leu204=
NM_001362828.2:c.610T>C NP_001349757.1:p.Leu204=
NM_007310.3:c.460T>C NP_009294.1:p.Leu154=