Canonical Allele Identifier: CA224213914
Community Standard Title: NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=)
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68050774G>C , CM000673.2:g.68050774G>C GRCh38
NC_000011.9:g.67818241G>C , CM000673.1:g.67818241G>C GRCh37
NC_000011.8:g.67574817G>C NCBI36
NG_007878.1:g.16759G>C , LRG_115:g.16759G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.2448G>C MANE Select NP_006010.2:p.Thr816=
ENST00000265686.8:c.2448G>C MANE Select ENSP00000265686.3:p.Thr816=
NM_001351059.1:c.1554G>C NP_001337988.1:p.Thr518=
NM_001351059.2:c.1554G>C NP_001337988.1:p.Thr518=
NM_006019.3:c.2448G>C NP_006010.2:p.Thr816=
NM_006053.3:c.1800G>C NP_006044.1:p.Thr600=
NM_006053.4:c.1800G>C NP_006044.1:p.Thr600=
ENST00000265686.7:c.2448G>C ENSP00000265686.3:p.Thr816=
ENST00000525724.5:n.1760G>C
ENST00000530063.1:c.173G>C ENSP00000432957.1:p.Arg58Pro
ENST00000530802.1:n.176G>C
ENST00000532635.5:c.1800G>C ENSP00000434407.1:p.Thr600=
ENST00000533005.5:n.1561G>C
ENST00000698254.1:c.1977G>C ENSP00000513629.1:p.Thr659=
ENST00000698255.1:c.2397G>C ENSP00000513630.1:p.Thr799=
ENST00000698257.1:n.1866G>C
ENST00000698258.1:n.1583G>C
XM_005273709.2:c.2448G>C XP_005273766.1:p.Thr816=
XM_011544726.1:c.2448G>C XP_011543028.1:p.Thr816=
XM_011544727.1:c.2270G>C XP_011543029.1:p.Arg757Pro
XM_024448320.1:c.2541G>C XP_024304088.1:p.Thr847=
XM_024448321.1:c.2541G>C XP_024304089.1:p.Thr847=
XM_024448322.1:c.2541G>C XP_024304090.1:p.Thr847=
XM_024448323.1:c.*32+74G>C XP_024304091.1:n.*32+74G>C
XR_001747721.2:n.2617G>C
XR_001747722.1:n.2585G>C
XR_001747723.2:n.2630G>C
XR_002957115.1:n.2806G>C