Canonical Allele Identifier: CA381581036
Community Standard Title: NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68044961G>T , CM000673.2:g.68044961G>T GRCh38
NC_000011.9:g.67812428G>T , CM000673.1:g.67812428G>T GRCh37
NC_000011.8:g.67569004G>T NCBI36
NG_007878.1:g.10946G>T , LRG_115:g.10946G>T

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.1024G>T MANE Select NP_006010.2:p.Glu342Ter
ENST00000265686.8:c.1024G>T MANE Select ENSP00000265686.3:p.Glu342Ter
NM_001351059.1:c.130G>T NP_001337988.1:p.Glu44Ter
NM_001351059.2:c.130G>T NP_001337988.1:p.Glu44Ter
NM_006019.3:c.1024G>T NP_006010.2:p.Glu342Ter
NM_006053.3:c.376G>T NP_006044.1:p.Glu126Ter
NM_006053.4:c.376G>T NP_006044.1:p.Glu126Ter
ENST00000265686.7:c.1024G>T ENSP00000265686.3:p.Glu342Ter
ENST00000525724.5:n.336G>T
ENST00000528981.5:c.114G>T
ENST00000529364.1:c.521-86G>T
ENST00000532635.5:c.376G>T ENSP00000434407.1:p.Glu126Ter
ENST00000533005.5:n.60G>T
ENST00000698254.1:c.553G>T ENSP00000513629.1:p.Glu185Ter
ENST00000698255.1:c.973G>T ENSP00000513630.1:p.Glu325Ter
ENST00000698256.1:c.490G>T
ENST00000698257.1:n.442G>T
XM_005273709.2:c.1024G>T XP_005273766.1:p.Glu342Ter
XM_011544726.1:c.1024G>T XP_011543028.1:p.Glu342Ter
XM_011544727.1:c.1024G>T XP_011543029.1:p.Glu342Ter
XM_011544728.1:c.1024G>T XP_011543030.1:p.Glu342Ter
XM_011544729.1:c.1040G>T XP_011543031.1:p.Gly347Val
XM_024448320.1:c.1040G>T XP_024304088.1:p.Gly347Val
XM_024448321.1:c.1040G>T XP_024304089.1:p.Gly347Val
XM_024448322.1:c.1040G>T XP_024304090.1:p.Gly347Val
XM_024448323.1:c.1040G>T XP_024304091.1:p.Gly347Val
XM_024448324.1:c.1040G>T XP_024304092.1:p.Gly347Val
XR_001747721.2:n.1148G>T
XR_001747722.1:n.1161G>T
XR_001747723.2:n.1161G>T
XR_002957115.1:n.1162G>T
XR_949754.1:n.1028G>T