Canonical Allele Identifier: CA410692324

Gene: COMT ARVCF

Linked Data

• gnomAD v4: 22-19968709-G-T
• MyVariant Identifiers: chr22:g.19956232G>T (hg19) ; chr22:g.19968709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19968709G>T , CM000684.2:g.19968709G>T	GRCh38
NC_000022.10:g.19956232G>T , CM000684.1:g.19956232G>T	GRCh37
NC_000022.9:g.18336232G>T	NCBI36
NG_011526.1:g.31970G>T
NG_023326.1:g.53078C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361682.11:c.789G>T (COMT) MANE Select	ENSP00000354511.6:p.Lys263Asn
ENST00000428707.2:c.*1282G>T (COMT)	ENSP00000387695.2:n.*1282G>T
ENST00000676678.1:c.789G>T (COMT)	ENSP00000503719.1:p.Lys263Asn
ENST00000677397.1:c.*368G>T (COMT)	ENSP00000503422.1:n.*368G>T
ENST00000677470.1:n.639G>T (COMT)
ENST00000677564.1:n.572G>T (COMT)
ENST00000677675.1:n.589G>T (COMT)
ENST00000678255.1:c.789G>T (COMT)	ENSP00000504402.1:p.Lys263Asn
ENST00000678769.1:c.882G>T (COMT)	ENSP00000503289.1:p.Lys294Asn
ENST00000678868.1:c.789G>T (COMT)	ENSP00000503583.1:p.Lys263Asn
ENST00000678945.1:n.657G>T (COMT)
ENST00000207636.9:c.*247G>T (COMT)	ENSP00000207636.5:n.*247G>T
ENST00000361682.10:c.789G>T (COMT)	ENSP00000354511.6:p.Lys263Asn
ENST00000403710.5:c.789G>T (COMT)	ENSP00000385917.1:p.Lys263Asn
ENST00000406520.7:c.789G>T (COMT)	ENSP00000385150.3:p.Lys263Asn
ENST00000407537.5:c.789G>T (COMT)	ENSP00000384654.2:p.Lys263Asn
ENST00000449653.5:c.639G>T (COMT)	ENSP00000416778.1:p.Lys213Asn
NM_000754.3:c.789G>T (COMT)	NP_000745.1:p.Lys263Asn
NM_001135161.1:c.789G>T (COMT)	NP_001128633.1:p.Lys263Asn
NM_001135162.1:c.789G>T (COMT)	NP_001128634.1:p.Lys263Asn
NM_007310.2:c.639G>T (COMT)	NP_009294.1:p.Lys213Asn
XM_005261242.1:c.2764-1500C>A (ARVCF)	XP_005261299.1:n.2764-1500C>A
XM_006724243.1:c.2782-1500C>A (ARVCF)	XP_006724306.1:n.2782-1500C>A
XM_006724246.2:c.2536-1500C>A (ARVCF)	XP_006724309.1:n.2536-1500C>A
XM_011529886.1:c.903G>T (COMT)	XP_011528188.1:p.Lys301Asn
XM_011530179.1:c.2749-1500C>A (ARVCF)	XP_011528481.1:n.2749-1500C>A
XM_011530182.1:c.1348-1500C>A (ARVCF)	XP_011528484.1:n.1348-1500C>A
NM_001362828.1:c.789G>T (COMT)	NP_001349757.1:p.Lys263Asn
XM_005261242.3:c.2764-1500C>A (ARVCF)	XP_005261299.1:n.2764-1500C>A
XM_006724243.3:c.2782-1500C>A (ARVCF)	XP_006724306.1:n.2782-1500C>A
XM_006724246.4:c.2536-1500C>A (ARVCF)	XP_006724309.1:n.2536-1500C>A
XM_011529886.2:c.1200G>T (COMT)	XP_011528188.2:p.Lys400Asn
XM_011530179.3:c.2749-1500C>A (ARVCF)	XP_011528481.1:n.2749-1500C>A
XM_011530182.3:c.1348-1500C>A (ARVCF)	XP_011528484.1:n.1348-1500C>A
XM_017028595.1:c.789G>T (COMT)	XP_016884084.1:p.Lys263Asn
XM_024452249.1:c.2536-1500C>A (ARVCF)	XP_024308017.1:n.2536-1500C>A
NM_000754.4:c.789G>T (COMT) MANE Select	NP_000745.1:p.Lys263Asn
NM_001135161.2:c.789G>T (COMT)	NP_001128633.1:p.Lys263Asn
NM_001135162.2:c.789G>T (COMT)	NP_001128634.1:p.Lys263Asn
NM_001362828.2:c.789G>T (COMT)	NP_001349757.1:p.Lys263Asn
NM_007310.3:c.639G>T (COMT)	NP_009294.1:p.Lys213Asn