Canonical Allele Identifier: CA6147093

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1437710
• ClinVar RCV Id: RCV001948795
• dbSNP Id: rs774863206
• ExAC: 11:67815207 C / T
• gnomAD v2: 11-67815207-C-T
• gnomAD v3: 11-68047740-C-T
• gnomAD v4: 11-68047740-C-T
• MyVariant Identifiers: chr11:g.67815207C>T (hg19) ; chr11:g.68047740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047740C>T , CM000673.2:g.68047740C>T	GRCh38
NC_000011.9:g.67815207C>T , CM000673.1:g.67815207C>T	GRCh37
NC_000011.8:g.67571783C>T	NCBI36
NG_007878.1:g.13725C>T , LRG_115:g.13725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.24C>T
ENST00000698254.1:c.928C>T	ENSP00000513629.1:p.Arg310Cys
ENST00000698255.1:c.1348C>T	ENSP00000513630.1:p.Arg450Cys
ENST00000698256.1:c.865C>T
ENST00000698257.1:n.817C>T
ENST00000698258.1:n.457C>T
ENST00000698259.1:n.223C>T
ENST00000265686.8:c.1399C>T MANE Select	ENSP00000265686.3:p.Arg467Cys
ENST00000265686.7:c.1399C>T	ENSP00000265686.3:p.Arg467Cys
ENST00000525516.1:n.193C>T
ENST00000525724.5:n.711C>T
ENST00000528981.5:c.551C>T
ENST00000529364.1:c.810C>T
ENST00000532635.5:c.751C>T	ENSP00000434407.1:p.Arg251Cys
ENST00000533005.5:n.435C>T
NM_006019.3:c.1399C>T	NP_006010.2:p.Arg467Cys
NM_006053.3:c.751C>T	NP_006044.1:p.Arg251Cys
XM_005273709.2:c.1399C>T	XP_005273766.1:p.Arg467Cys
XM_011544726.1:c.1399C>T	XP_011543028.1:p.Arg467Cys
XM_011544727.1:c.1399C>T	XP_011543029.1:p.Arg467Cys
XM_011544728.1:c.1399C>T	XP_011543030.1:p.Arg467Cys
XM_011544729.1:c.1415C>T	XP_011543031.1:p.Ser472Leu
XR_949754.1:n.1403C>T
NM_001351059.1:c.505C>T	NP_001337988.1:p.Arg169Cys
XM_024448320.1:c.1415C>T	XP_024304088.1:p.Ser472Leu
XM_024448321.1:c.1415C>T	XP_024304089.1:p.Ser472Leu
XM_024448322.1:c.1415C>T	XP_024304090.1:p.Ser472Leu
XM_024448323.1:c.1415C>T	XP_024304091.1:p.Ser472Leu
XM_024448324.1:c.1415C>T	XP_024304092.1:p.Ser472Leu
XR_001747721.2:n.1523C>T
XR_001747722.1:n.1536C>T
XR_001747723.2:n.1536C>T
XR_002957115.1:n.1537C>T
NM_006019.4:c.1399C>T MANE Select	NP_006010.2:p.Arg467Cys
NM_001351059.2:c.505C>T	NP_001337988.1:p.Arg169Cys
NM_006053.4:c.751C>T	NP_006044.1:p.Arg251Cys