Canonical Allele Identifier: CA10104568

Gene: COMT

Linked Data

• dbSNP Id: rs749544037
• ExAC: 22:19951214 A / G
• gnomAD v2: 22-19951214-A-G
• gnomAD v3: 22-19963691-A-G
• gnomAD v4: 22-19963691-A-G
• MyVariant Identifiers: chr22:g.19951214A>G (hg19) ; chr22:g.19963691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19963691A>G , CM000684.2:g.19963691A>G	GRCh38
NC_000022.10:g.19951214A>G , CM000684.1:g.19951214A>G	GRCh37
NC_000022.9:g.18331214A>G	NCBI36
NG_011526.1:g.26952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361682.11:c.415A>G MANE Select	ENSP00000354511.6:p.Ile139Val
ENST00000428707.2:c.415A>G	ENSP00000387695.2:p.Ile139Val
ENST00000676678.1:c.415A>G	ENSP00000503719.1:p.Ile139Val
ENST00000677397.1:c.265A>G	ENSP00000503422.1:p.Ile89Val
ENST00000677564.1:n.198A>G
ENST00000677675.1:n.215A>G
ENST00000678240.1:n.263A>G
ENST00000678255.1:c.415A>G	ENSP00000504402.1:p.Ile139Val
ENST00000678769.1:c.415A>G	ENSP00000503289.1:p.Ile139Val
ENST00000678868.1:c.415A>G	ENSP00000503583.1:p.Ile139Val
ENST00000678945.1:n.225A>G
ENST00000207636.9:c.415A>G	ENSP00000207636.5:p.Ile139Val
ENST00000361682.10:c.415A>G	ENSP00000354511.6:p.Ile139Val
ENST00000403184.5:c.415A>G	ENSP00000383966.1:p.Ile139Val
ENST00000403710.5:c.415A>G	ENSP00000385917.1:p.Ile139Val
ENST00000406520.7:c.415A>G	ENSP00000385150.3:p.Ile139Val
ENST00000407537.5:c.415A>G	ENSP00000384654.2:p.Ile139Val
ENST00000412786.5:c.415A>G	ENSP00000403958.1:p.Ile139Val
ENST00000449653.5:c.265A>G	ENSP00000416778.1:p.Ile89Val
ENST00000493893.1:n.153A>G
NM_000754.3:c.415A>G	NP_000745.1:p.Ile139Val
NM_001135161.1:c.415A>G	NP_001128633.1:p.Ile139Val
NM_001135162.1:c.415A>G	NP_001128634.1:p.Ile139Val
NM_007310.2:c.265A>G	NP_009294.1:p.Ile89Val
XM_011529885.1:c.529A>G	XP_011528187.1:p.Ile177Val
XM_011529886.1:c.529A>G	XP_011528188.1:p.Ile177Val
XM_011529887.1:c.415A>G	XP_011528189.1:p.Ile139Val
XM_011529888.1:c.415A>G	XP_011528190.1:p.Ile139Val
XM_011529889.1:c.415A>G	XP_011528191.1:p.Ile139Val
XM_011529890.1:c.415A>G	XP_011528192.1:p.Ile139Val
XM_011529891.1:c.415A>G	XP_011528193.1:p.Ile139Val
NM_001362828.1:c.415A>G	NP_001349757.1:p.Ile139Val
XM_011529886.2:c.826A>G	XP_011528188.2:p.Ile276Val
XM_017028595.1:c.415A>G	XP_016884084.1:p.Ile139Val
NM_000754.4:c.415A>G MANE Select	NP_000745.1:p.Ile139Val
NM_001135161.2:c.415A>G	NP_001128633.1:p.Ile139Val
NM_001135162.2:c.415A>G	NP_001128634.1:p.Ile139Val
NM_001362828.2:c.415A>G	NP_001349757.1:p.Ile139Val
NM_007310.3:c.265A>G	NP_009294.1:p.Ile89Val