Canonical Allele Identifier: CA381584433
Gene: TCIRG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2042899
ClinVar RCV Id: RCV002908281

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68047887C>T , CM000673.2:g.68047887C>T GRCh38
NC_000011.9:g.67815354C>T , CM000673.1:g.67815354C>T GRCh37
NC_000011.8:g.67571930C>T NCBI36
NG_007878.1:g.13872C>T , LRG_115:g.13872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000530449.2:n.94C>T
ENST00000698254.1:c.998C>T ENSP00000513629.1:p.Ala333Val
ENST00000698255.1:c.1418C>T ENSP00000513630.1:p.Ala473Val
ENST00000698256.1:c.935C>T
ENST00000698257.1:n.887C>T
ENST00000698258.1:n.604C>T
ENST00000698259.1:n.370C>T
ENST00000265686.8:c.1469C>T MANE Select ENSP00000265686.3:p.Ala490Val
ENST00000265686.7:c.1469C>T ENSP00000265686.3:p.Ala490Val
ENST00000525516.1:n.263C>T
ENST00000525724.5:n.781C>T
ENST00000528981.5:c.621C>T
ENST00000532635.5:c.821C>T ENSP00000434407.1:p.Ala274Val
ENST00000533005.5:n.582C>T
NM_006019.3:c.1469C>T NP_006010.2:p.Ala490Val
NM_006053.3:c.821C>T NP_006044.1:p.Ala274Val
XM_005273709.2:c.1469C>T XP_005273766.1:p.Ala490Val
XM_011544726.1:c.1469C>T XP_011543028.1:p.Ala490Val
XM_011544727.1:c.1469C>T XP_011543029.1:p.Ala490Val
XM_011544728.1:c.1469C>T XP_011543030.1:p.Ala490Val
XM_011544729.1:c.*3C>T XP_011543031.1:n.*3C>T
XR_949754.1:n.1473C>T
NM_001351059.1:c.575C>T NP_001337988.1:p.Ala192Val
XM_024448320.1:c.1562C>T XP_024304088.1:p.Ala521Val
XM_024448321.1:c.1562C>T XP_024304089.1:p.Ala521Val
XM_024448322.1:c.1562C>T XP_024304090.1:p.Ala521Val
XM_024448323.1:c.1562C>T XP_024304091.1:p.Ala521Val
XM_024448324.1:c.1562C>T XP_024304092.1:p.Ala521Val
XR_001747721.2:n.1593C>T
XR_001747722.1:n.1606C>T
XR_001747723.2:n.1606C>T
XR_002957115.1:n.1684C>T
NM_006019.4:c.1469C>T MANE Select NP_006010.2:p.Ala490Val
NM_001351059.2:c.575C>T NP_001337988.1:p.Ala192Val
NM_006053.4:c.821C>T NP_006044.1:p.Ala274Val