Canonical Allele Identifier: CA240099

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 194236
• ClinVar RCV Id: RCV000174560 ; RCV000375300 ; RCV000959920
• dbSNP Id: rs34211419
• ExAC: 11:67815400 C / T
• gnomAD v2: 11-67815400-C-T
• gnomAD v3: 11-68047933-C-T
• gnomAD v4: 11-68047933-C-T
• MyVariant Identifiers: chr11:g.67815400C>T (hg19) ; chr11:g.68047933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047933C>T , CM000673.2:g.68047933C>T	GRCh38
NC_000011.9:g.67815400C>T , CM000673.1:g.67815400C>T	GRCh37
NC_000011.8:g.67571976C>T	NCBI36
NG_007878.1:g.13918C>T , LRG_115:g.13918C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.140C>T
ENST00000698254.1:c.1044C>T	ENSP00000513629.1:p.Thr348=
ENST00000698255.1:c.1464C>T	ENSP00000513630.1:p.Thr488=
ENST00000698256.1:c.981C>T
ENST00000698257.1:n.933C>T
ENST00000698258.1:n.650C>T
ENST00000698259.1:n.416C>T
ENST00000265686.8:c.1515C>T MANE Select	ENSP00000265686.3:p.Thr505=
ENST00000265686.7:c.1515C>T	ENSP00000265686.3:p.Thr505=
ENST00000525516.1:n.309C>T
ENST00000525724.5:n.827C>T
ENST00000528981.5:c.667C>T
ENST00000532635.5:c.867C>T	ENSP00000434407.1:p.Thr289=
ENST00000533005.5:n.628C>T
NM_006019.3:c.1515C>T	NP_006010.2:p.Thr505=
NM_006053.3:c.867C>T	NP_006044.1:p.Thr289=
XM_005273709.2:c.1515C>T	XP_005273766.1:p.Thr505=
XM_011544726.1:c.1515C>T	XP_011543028.1:p.Thr505=
XM_011544727.1:c.1515C>T	XP_011543029.1:p.Thr505=
XM_011544728.1:c.1515C>T	XP_011543030.1:p.Thr505=
XR_949754.1:n.1519C>T
NM_001351059.1:c.621C>T	NP_001337988.1:p.Thr207=
XM_024448320.1:c.1608C>T	XP_024304088.1:p.Thr536=
XM_024448321.1:c.1608C>T	XP_024304089.1:p.Thr536=
XM_024448322.1:c.1608C>T	XP_024304090.1:p.Thr536=
XM_024448323.1:c.1608C>T	XP_024304091.1:p.Thr536=
XM_024448324.1:c.1608C>T	XP_024304092.1:p.Thr536=
XR_001747721.2:n.1639C>T
XR_001747722.1:n.1652C>T
XR_001747723.2:n.1652C>T
XR_002957115.1:n.1730C>T
NM_006019.4:c.1515C>T MANE Select	NP_006010.2:p.Thr505=
NM_001351059.2:c.621C>T	NP_001337988.1:p.Thr207=
NM_006053.4:c.867C>T	NP_006044.1:p.Thr289=