Canonical Allele Identifier: CA410689235

Gene: COMT

Linked Data

• gnomAD v4: 22-19963571-A-C
• MyVariant Identifiers: chr22:g.19951094A>C (hg19) ; chr22:g.19963571A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19963571A>C , CM000684.2:g.19963571A>C	GRCh38
NC_000022.10:g.19951094A>C , CM000684.1:g.19951094A>C	GRCh37
NC_000022.9:g.18331094A>C	NCBI36
NG_011526.1:g.26832A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.295A>C MANE Select	ENSP00000354511.6:p.Ile99Leu
ENST00000428707.2:c.295A>C	ENSP00000387695.2:p.Ile99Leu
ENST00000676678.1:c.295A>C	ENSP00000503719.1:p.Ile99Leu
ENST00000677397.1:c.145A>C	ENSP00000503422.1:p.Ile49Leu
ENST00000677564.1:n.78A>C
ENST00000677675.1:n.95A>C
ENST00000678240.1:n.143A>C
ENST00000678255.1:c.295A>C	ENSP00000504402.1:p.Ile99Leu
ENST00000678769.1:c.295A>C	ENSP00000503289.1:p.Ile99Leu
ENST00000678868.1:c.295A>C	ENSP00000503583.1:p.Ile99Leu
ENST00000678945.1:n.105A>C
ENST00000207636.9:c.295A>C	ENSP00000207636.5:p.Ile99Leu
ENST00000361682.10:c.295A>C	ENSP00000354511.6:p.Ile99Leu
ENST00000403184.5:c.295A>C	ENSP00000383966.1:p.Ile99Leu
ENST00000403710.5:c.295A>C	ENSP00000385917.1:p.Ile99Leu
ENST00000406520.7:c.295A>C	ENSP00000385150.3:p.Ile99Leu
ENST00000407537.5:c.295A>C	ENSP00000384654.2:p.Ile99Leu
ENST00000412786.5:c.295A>C	ENSP00000403958.1:p.Ile99Leu
ENST00000449653.5:c.145A>C	ENSP00000416778.1:p.Ile49Leu
ENST00000493893.1:n.33A>C
NM_000754.3:c.295A>C	NP_000745.1:p.Ile99Leu
NM_001135161.1:c.295A>C	NP_001128633.1:p.Ile99Leu
NM_001135162.1:c.295A>C	NP_001128634.1:p.Ile99Leu
NM_007310.2:c.145A>C	NP_009294.1:p.Ile49Leu
XM_011529885.1:c.409A>C	XP_011528187.1:p.Ile137Leu
XM_011529886.1:c.409A>C	XP_011528188.1:p.Ile137Leu
XM_011529887.1:c.295A>C	XP_011528189.1:p.Ile99Leu
XM_011529888.1:c.295A>C	XP_011528190.1:p.Ile99Leu
XM_011529889.1:c.295A>C	XP_011528191.1:p.Ile99Leu
XM_011529890.1:c.295A>C	XP_011528192.1:p.Ile99Leu
XM_011529891.1:c.295A>C	XP_011528193.1:p.Ile99Leu
NM_001362828.1:c.295A>C	NP_001349757.1:p.Ile99Leu
XM_011529886.2:c.706A>C	XP_011528188.2:p.Ile236Leu
XM_017028595.1:c.295A>C	XP_016884084.1:p.Ile99Leu
NM_000754.4:c.295A>C MANE Select	NP_000745.1:p.Ile99Leu
NM_001135161.2:c.295A>C	NP_001128633.1:p.Ile99Leu
NM_001135162.2:c.295A>C	NP_001128634.1:p.Ile99Leu
NM_001362828.2:c.295A>C	NP_001349757.1:p.Ile99Leu
NM_007310.3:c.145A>C	NP_009294.1:p.Ile49Leu