Canonical Allele Identifier: CA117542

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 5460
• ClinVar RCV Id: RCV000005793
• dbSNP Id: rs137853149
• MyVariant Identifiers: chr11:g.67815200C>A (hg19) ; chr11:g.68047733C>A (hg38)
• PubMed: PMID:10888887

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047733C>A , CM000673.2:g.68047733C>A	GRCh38
NC_000011.9:g.67815200C>A , CM000673.1:g.67815200C>A	GRCh37
NC_000011.8:g.67571776C>A	NCBI36
NG_007878.1:g.13718C>A , LRG_115:g.13718C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000530449.2:n.17C>A
ENST00000698254.1:c.921C>A	ENSP00000513629.1:p.Cys307Ter
ENST00000698255.1:c.1341C>A	ENSP00000513630.1:p.Cys447Ter
ENST00000698256.1:c.858C>A
ENST00000698257.1:n.810C>A
ENST00000698258.1:n.450C>A
ENST00000698259.1:n.216C>A
ENST00000265686.8:c.1392C>A MANE Select	ENSP00000265686.3:p.Cys464Ter
ENST00000265686.7:c.1392C>A	ENSP00000265686.3:p.Cys464Ter
ENST00000525516.1:n.186C>A
ENST00000525724.5:n.704C>A
ENST00000528981.5:c.544C>A
ENST00000529364.1:c.803C>A
ENST00000532635.5:c.744C>A	ENSP00000434407.1:p.Cys248Ter
ENST00000533005.5:n.428C>A
NM_006019.3:c.1392C>A	NP_006010.2:p.Cys464Ter
NM_006053.3:c.744C>A	NP_006044.1:p.Cys248Ter
XM_005273709.2:c.1392C>A	XP_005273766.1:p.Cys464Ter
XM_011544726.1:c.1392C>A	XP_011543028.1:p.Cys464Ter
XM_011544727.1:c.1392C>A	XP_011543029.1:p.Cys464Ter
XM_011544728.1:c.1392C>A	XP_011543030.1:p.Cys464Ter
XM_011544729.1:c.1408C>A	XP_011543031.1:p.Leu470Ile
XR_949754.1:n.1396C>A
NM_001351059.1:c.498C>A	NP_001337988.1:p.Cys166Ter
XM_024448320.1:c.1408C>A	XP_024304088.1:p.Leu470Ile
XM_024448321.1:c.1408C>A	XP_024304089.1:p.Leu470Ile
XM_024448322.1:c.1408C>A	XP_024304090.1:p.Leu470Ile
XM_024448323.1:c.1408C>A	XP_024304091.1:p.Leu470Ile
XM_024448324.1:c.1408C>A	XP_024304092.1:p.Leu470Ile
XR_001747721.2:n.1516C>A
XR_001747722.1:n.1529C>A
XR_001747723.2:n.1529C>A
XR_002957115.1:n.1530C>A
NM_006019.4:c.1392C>A MANE Select	NP_006010.2:p.Cys464Ter
NM_001351059.2:c.498C>A	NP_001337988.1:p.Cys166Ter
NM_006053.4:c.744C>A	NP_006044.1:p.Cys248Ter