Canonical Allele Identifier: CA381584155

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1490126
• ClinVar RCV Id: RCV001983597
• dbSNP Id: rs757676092
• MyVariant Identifiers: chr11:g.67815236G>C (hg19) ; chr11:g.68047769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047769G>C , CM000673.2:g.68047769G>C	GRCh38
NC_000011.9:g.67815236G>C , CM000673.1:g.67815236G>C	GRCh37
NC_000011.8:g.67571812G>C	NCBI36
NG_007878.1:g.13754G>C , LRG_115:g.13754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.53G>C
ENST00000698254.1:c.957G>C	ENSP00000513629.1:p.Trp319Cys
ENST00000698255.1:c.1377G>C	ENSP00000513630.1:p.Trp459Cys
ENST00000698256.1:c.894G>C
ENST00000698257.1:n.846G>C
ENST00000698258.1:n.486G>C
ENST00000698259.1:n.252G>C
ENST00000265686.8:c.1428G>C MANE Select	ENSP00000265686.3:p.Trp476Cys
ENST00000265686.7:c.1428G>C	ENSP00000265686.3:p.Trp476Cys
ENST00000525516.1:n.222G>C
ENST00000525724.5:n.740G>C
ENST00000528981.5:c.580G>C
ENST00000529364.1:c.839G>C
ENST00000532635.5:c.780G>C	ENSP00000434407.1:p.Trp260Cys
ENST00000533005.5:n.464G>C
NM_006019.3:c.1428G>C	NP_006010.2:p.Trp476Cys
NM_006053.3:c.780G>C	NP_006044.1:p.Trp260Cys
XM_005273709.2:c.1428G>C	XP_005273766.1:p.Trp476Cys
XM_011544726.1:c.1428G>C	XP_011543028.1:p.Trp476Cys
XM_011544727.1:c.1428G>C	XP_011543029.1:p.Trp476Cys
XM_011544728.1:c.1428G>C	XP_011543030.1:p.Trp476Cys
XM_011544729.1:c.1444G>C	XP_011543031.1:p.Glu482Gln
XR_949754.1:n.1432G>C
NM_001351059.1:c.534G>C	NP_001337988.1:p.Trp178Cys
XM_024448320.1:c.1444G>C	XP_024304088.1:p.Glu482Gln
XM_024448321.1:c.1444G>C	XP_024304089.1:p.Glu482Gln
XM_024448322.1:c.1444G>C	XP_024304090.1:p.Glu482Gln
XM_024448323.1:c.1444G>C	XP_024304091.1:p.Glu482Gln
XM_024448324.1:c.1444G>C	XP_024304092.1:p.Glu482Gln
XR_001747721.2:n.1552G>C
XR_001747722.1:n.1565G>C
XR_001747723.2:n.1565G>C
XR_002957115.1:n.1566G>C
NM_006019.4:c.1428G>C MANE Select	NP_006010.2:p.Trp476Cys
NM_001351059.2:c.534G>C	NP_001337988.1:p.Trp178Cys
NM_006053.4:c.780G>C	NP_006044.1:p.Trp260Cys