Canonical Allele Identifier: CA410692388

Gene: COMT ARVCF

Linked Data

• dbSNP Id: rs1299092675
• gnomAD v2: 22-19956248-G-A
• gnomAD v4: 22-19968725-G-A
• MyVariant Identifiers: chr22:g.19956248G>A (hg19) ; chr22:g.19968725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19968725G>A , CM000684.2:g.19968725G>A	GRCh38
NC_000022.10:g.19956248G>A , CM000684.1:g.19956248G>A	GRCh37
NC_000022.9:g.18336248G>A	NCBI36
NG_011526.1:g.31986G>A
NG_023326.1:g.53062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.805G>A (COMT) MANE Select	ENSP00000354511.6:p.Ala269Thr
ENST00000428707.2:c.*1298G>A (COMT)	ENSP00000387695.2:n.*1298G>A
ENST00000676678.1:c.805G>A (COMT)	ENSP00000503719.1:p.Ala269Thr
ENST00000677397.1:c.*384G>A (COMT)	ENSP00000503422.1:n.*384G>A
ENST00000677470.1:n.655G>A (COMT)
ENST00000677564.1:n.588G>A (COMT)
ENST00000677675.1:n.605G>A (COMT)
ENST00000678255.1:c.805G>A (COMT)	ENSP00000504402.1:p.Ala269Thr
ENST00000678769.1:c.898G>A (COMT)	ENSP00000503289.1:p.Ala300Thr
ENST00000678868.1:c.805G>A (COMT)	ENSP00000503583.1:p.Ala269Thr
ENST00000678945.1:n.673G>A (COMT)
ENST00000207636.9:c.*263G>A (COMT)	ENSP00000207636.5:n.*263G>A
ENST00000361682.10:c.805G>A (COMT)	ENSP00000354511.6:p.Ala269Thr
ENST00000403710.5:c.805G>A (COMT)	ENSP00000385917.1:p.Ala269Thr
ENST00000406520.7:c.805G>A (COMT)	ENSP00000385150.3:p.Ala269Thr
ENST00000407537.5:c.805G>A (COMT)	ENSP00000384654.2:p.Ala269Thr
ENST00000449653.5:c.655G>A (COMT)	ENSP00000416778.1:p.Ala219Thr
NM_000754.3:c.805G>A (COMT)	NP_000745.1:p.Ala269Thr
NM_001135161.1:c.805G>A (COMT)	NP_001128633.1:p.Ala269Thr
NM_001135162.1:c.805G>A (COMT)	NP_001128634.1:p.Ala269Thr
NM_007310.2:c.655G>A (COMT)	NP_009294.1:p.Ala219Thr
XM_005261242.1:c.2764-1516C>T (ARVCF)	XP_005261299.1:n.2764-1516C>T
XM_006724243.1:c.2782-1516C>T (ARVCF)	XP_006724306.1:n.2782-1516C>T
XM_006724246.2:c.2536-1516C>T (ARVCF)	XP_006724309.1:n.2536-1516C>T
XM_011529886.1:c.919G>A (COMT)	XP_011528188.1:p.Ala307Thr
XM_011530179.1:c.2749-1516C>T (ARVCF)	XP_011528481.1:n.2749-1516C>T
XM_011530182.1:c.1348-1516C>T (ARVCF)	XP_011528484.1:n.1348-1516C>T
NM_001362828.1:c.805G>A (COMT)	NP_001349757.1:p.Ala269Thr
XM_005261242.3:c.2764-1516C>T (ARVCF)	XP_005261299.1:n.2764-1516C>T
XM_006724243.3:c.2782-1516C>T (ARVCF)	XP_006724306.1:n.2782-1516C>T
XM_006724246.4:c.2536-1516C>T (ARVCF)	XP_006724309.1:n.2536-1516C>T
XM_011529886.2:c.1216G>A (COMT)	XP_011528188.2:p.Ala406Thr
XM_011530179.3:c.2749-1516C>T (ARVCF)	XP_011528481.1:n.2749-1516C>T
XM_011530182.3:c.1348-1516C>T (ARVCF)	XP_011528484.1:n.1348-1516C>T
XM_017028595.1:c.805G>A (COMT)	XP_016884084.1:p.Ala269Thr
XM_024452249.1:c.2536-1516C>T (ARVCF)	XP_024308017.1:n.2536-1516C>T
NM_000754.4:c.805G>A (COMT) MANE Select	NP_000745.1:p.Ala269Thr
NM_001135161.2:c.805G>A (COMT)	NP_001128633.1:p.Ala269Thr
NM_001135162.2:c.805G>A (COMT)	NP_001128634.1:p.Ala269Thr
NM_001362828.2:c.805G>A (COMT)	NP_001349757.1:p.Ala269Thr
NM_007310.3:c.655G>A (COMT)	NP_009294.1:p.Ala219Thr