Canonical Allele Identifier: CA513688536
Gene: COMT HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.19951813T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19964290T>G , CM000684.2:g.19964290T>G GRCh38
NC_000022.10:g.19951813T>G , CM000684.1:g.19951813T>G GRCh37
NC_000022.9:g.18331813T>G NCBI36
NG_011526.1:g.27551T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000361682.11:c.606T>G MANE Select ENSP00000354511.6:p.Leu202=
ENST00000428707.2:c.606T>G ENSP00000387695.2:p.Leu202=
ENST00000676678.1:c.606T>G ENSP00000503719.1:p.Leu202=
ENST00000677397.1:c.456T>G ENSP00000503422.1:p.Leu152=
ENST00000677470.1:n.456T>G
ENST00000677564.1:n.389T>G
ENST00000677675.1:n.406T>G
ENST00000678240.1:n.454T>G
ENST00000678255.1:c.606T>G ENSP00000504402.1:p.Leu202=
ENST00000678769.1:c.606T>G ENSP00000503289.1:p.Leu202=
ENST00000678868.1:c.606T>G ENSP00000503583.1:p.Leu202=
ENST00000678945.1:n.474T>G
ENST00000207636.9:c.*64T>G ENSP00000207636.5:n.*64T>G
ENST00000361682.10:c.606T>G ENSP00000354511.6:p.Leu202=
ENST00000403184.5:c.606T>G ENSP00000383966.1:p.Leu202=
ENST00000403710.5:c.606T>G ENSP00000385917.1:p.Leu202=
ENST00000406520.7:c.606T>G ENSP00000385150.3:p.Leu202=
ENST00000407537.5:c.606T>G ENSP00000384654.2:p.Leu202=
ENST00000412786.5:c.606T>G ENSP00000403958.1:p.Leu202=
ENST00000428707.1:c.184T>G
ENST00000449653.5:c.456T>G ENSP00000416778.1:p.Leu152=
ENST00000493893.1:n.344T>G
NM_000754.3:c.606T>G NP_000745.1:p.Leu202=
NM_001135161.1:c.606T>G NP_001128633.1:p.Leu202=
NM_001135162.1:c.606T>G NP_001128634.1:p.Leu202=
NM_007310.2:c.456T>G NP_009294.1:p.Leu152=
XM_011529885.1:c.720T>G XP_011528187.1:p.Leu240=
XM_011529886.1:c.720T>G XP_011528188.1:p.Leu240=
XM_011529887.1:c.606T>G XP_011528189.1:p.Leu202=
XM_011529888.1:c.606T>G XP_011528190.1:p.Leu202=
XM_011529889.1:c.606T>G XP_011528191.1:p.Leu202=
XM_011529890.1:c.606T>G XP_011528192.1:p.Leu202=
XM_011529891.1:c.606T>G XP_011528193.1:p.Leu202=
NM_001362828.1:c.606T>G NP_001349757.1:p.Leu202=
XM_011529886.2:c.1017T>G XP_011528188.2:p.Leu339=
XM_017028595.1:c.606T>G XP_016884084.1:p.Leu202=
NM_000754.4:c.606T>G MANE Select NP_000745.1:p.Leu202=
NM_001135161.2:c.606T>G NP_001128633.1:p.Leu202=
NM_001135162.2:c.606T>G NP_001128634.1:p.Leu202=
NM_001362828.2:c.606T>G NP_001349757.1:p.Leu202=
NM_007310.3:c.456T>G NP_009294.1:p.Leu152=