Canonical Allele Identifier: CA6147320

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 305813
• ClinVar RCV Id: RCV000347884 ; RCV000930117 ; RCV003920261
• dbSNP Id: rs763119311
• ExAC: 11:67817146 C / T
• gnomAD v2: 11-67817146-C-T
• gnomAD v3: 11-68049679-C-T
• gnomAD v4: 11-68049679-C-T
• MyVariant Identifiers: chr11:g.67817146C>T (hg19) ; chr11:g.68049679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68049679C>T , CM000673.2:g.68049679C>T	GRCh38
NC_000011.9:g.67817146C>T , CM000673.1:g.67817146C>T	GRCh37
NC_000011.8:g.67573722C>T	NCBI36
NG_007878.1:g.15664C>T , LRG_115:g.15664C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.897C>T
ENST00000698254.1:c.1433C>T	ENSP00000513629.1:p.Thr478Met
ENST00000698255.1:c.1853C>T	ENSP00000513630.1:p.Thr618Met
ENST00000698256.1:c.1370C>T
ENST00000698257.1:n.1322C>T
ENST00000698258.1:n.1039C>T
ENST00000698259.1:n.1173C>T
ENST00000265686.8:c.1904C>T MANE Select	ENSP00000265686.3:p.Thr635Met
ENST00000265686.7:c.1904C>T	ENSP00000265686.3:p.Thr635Met
ENST00000524870.1:n.532C>T
ENST00000525724.5:n.1216C>T
ENST00000532635.5:c.1256C>T	ENSP00000434407.1:p.Thr419Met
ENST00000533005.5:n.1017C>T
NM_006019.3:c.1904C>T	NP_006010.2:p.Thr635Met
NM_006053.3:c.1256C>T	NP_006044.1:p.Thr419Met
XM_005273709.2:c.1904C>T	XP_005273766.1:p.Thr635Met
XM_011544726.1:c.1904C>T	XP_011543028.1:p.Thr635Met
XM_011544727.1:c.1904C>T	XP_011543029.1:p.Thr635Met
XR_949754.1:n.2051C>T
NM_001351059.1:c.1010C>T	NP_001337988.1:p.Thr337Met
XM_024448320.1:c.1997C>T	XP_024304088.1:p.Thr666Met
XM_024448321.1:c.1997C>T	XP_024304089.1:p.Thr666Met
XM_024448322.1:c.1997C>T	XP_024304090.1:p.Thr666Met
XM_024448323.1:c.1997C>T	XP_024304091.1:p.Thr666Met
XM_024448324.1:c.*38C>T	XP_024304092.1:n.*38C>T
XR_001747721.2:n.2073C>T
XR_001747722.1:n.2041C>T
XR_001747723.2:n.2086C>T
XR_002957115.1:n.2262C>T
NM_006019.4:c.1904C>T MANE Select	NP_006010.2:p.Thr635Met
NM_001351059.2:c.1010C>T	NP_001337988.1:p.Thr337Met
NM_006053.4:c.1256C>T	NP_006044.1:p.Thr419Met