Canonical Allele Identifier: CA513364565

Linked Data

MyVariant Identifiers: chr22:g.19956238A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19968715A>G , CM000684.2:g.19968715A>G GRCh38
NC_000022.10:g.19956238A>G , CM000684.1:g.19956238A>G GRCh37
NC_000022.9:g.18336238A>G NCBI36
NG_011526.1:g.31976A>G
NG_023326.1:g.53072T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361682.11:c.795A>G (COMT) MANE Select ENSP00000354511.6:p.Pro265=
ENST00000428707.2:c.*1288A>G (COMT) ENSP00000387695.2:n.*1288A>G
ENST00000676678.1:c.795A>G (COMT) ENSP00000503719.1:p.Pro265=
ENST00000677397.1:c.*374A>G (COMT) ENSP00000503422.1:n.*374A>G
ENST00000677470.1:n.645A>G (COMT)
ENST00000677564.1:n.578A>G (COMT)
ENST00000677675.1:n.595A>G (COMT)
ENST00000678255.1:c.795A>G (COMT) ENSP00000504402.1:p.Pro265=
ENST00000678769.1:c.888A>G (COMT) ENSP00000503289.1:p.Pro296=
ENST00000678868.1:c.795A>G (COMT) ENSP00000503583.1:p.Pro265=
ENST00000678945.1:n.663A>G (COMT)
ENST00000207636.9:c.*253A>G (COMT) ENSP00000207636.5:n.*253A>G
ENST00000361682.10:c.795A>G (COMT) ENSP00000354511.6:p.Pro265=
ENST00000403710.5:c.795A>G (COMT) ENSP00000385917.1:p.Pro265=
ENST00000406520.7:c.795A>G (COMT) ENSP00000385150.3:p.Pro265=
ENST00000407537.5:c.795A>G (COMT) ENSP00000384654.2:p.Pro265=
ENST00000449653.5:c.645A>G (COMT) ENSP00000416778.1:p.Pro215=
NM_000754.3:c.795A>G (COMT) NP_000745.1:p.Pro265=
NM_001135161.1:c.795A>G (COMT) NP_001128633.1:p.Pro265=
NM_001135162.1:c.795A>G (COMT) NP_001128634.1:p.Pro265=
NM_007310.2:c.645A>G (COMT) NP_009294.1:p.Pro215=
XM_005261242.1:c.2764-1506T>C (ARVCF) XP_005261299.1:n.2764-1506T>C
XM_006724243.1:c.2782-1506T>C (ARVCF) XP_006724306.1:n.2782-1506T>C
XM_006724246.2:c.2536-1506T>C (ARVCF) XP_006724309.1:n.2536-1506T>C
XM_011529886.1:c.909A>G (COMT) XP_011528188.1:p.Pro303=
XM_011530179.1:c.2749-1506T>C (ARVCF) XP_011528481.1:n.2749-1506T>C
XM_011530182.1:c.1348-1506T>C (ARVCF) XP_011528484.1:n.1348-1506T>C
NM_001362828.1:c.795A>G (COMT) NP_001349757.1:p.Pro265=
XM_005261242.3:c.2764-1506T>C (ARVCF) XP_005261299.1:n.2764-1506T>C
XM_006724243.3:c.2782-1506T>C (ARVCF) XP_006724306.1:n.2782-1506T>C
XM_006724246.4:c.2536-1506T>C (ARVCF) XP_006724309.1:n.2536-1506T>C
XM_011529886.2:c.1206A>G (COMT) XP_011528188.2:p.Pro402=
XM_011530179.3:c.2749-1506T>C (ARVCF) XP_011528481.1:n.2749-1506T>C
XM_011530182.3:c.1348-1506T>C (ARVCF) XP_011528484.1:n.1348-1506T>C
XM_017028595.1:c.795A>G (COMT) XP_016884084.1:p.Pro265=
XM_024452249.1:c.2536-1506T>C (ARVCF) XP_024308017.1:n.2536-1506T>C
NM_000754.4:c.795A>G (COMT) MANE Select NP_000745.1:p.Pro265=
NM_001135161.2:c.795A>G (COMT) NP_001128633.1:p.Pro265=
NM_001135162.2:c.795A>G (COMT) NP_001128634.1:p.Pro265=
NM_001362828.2:c.795A>G (COMT) NP_001349757.1:p.Pro265=
NM_007310.3:c.645A>G (COMT) NP_009294.1:p.Pro215=