Canonical Allele Identifier: CA6147153

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 709288
• ClinVar RCV Id: RCV000880671 ; RCV001115090
• dbSNP Id: rs138049763
• ExAC: 11:67815421 C / T
• gnomAD v2: 11-67815421-C-T
• gnomAD v3: 11-68047954-C-T
• gnomAD v4: 11-68047954-C-T
• MyVariant Identifiers: chr11:g.67815421C>T (hg19) ; chr11:g.68047954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047954C>T , CM000673.2:g.68047954C>T	GRCh38
NC_000011.9:g.67815421C>T , CM000673.1:g.67815421C>T	GRCh37
NC_000011.8:g.67571997C>T	NCBI36
NG_007878.1:g.13939C>T , LRG_115:g.13939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.161C>T
ENST00000698254.1:c.1065C>T	ENSP00000513629.1:p.Tyr355=
ENST00000698255.1:c.1485C>T	ENSP00000513630.1:p.Tyr495=
ENST00000698256.1:c.1002C>T
ENST00000698257.1:n.954C>T
ENST00000698258.1:n.671C>T
ENST00000698259.1:n.437C>T
ENST00000265686.8:c.1536C>T MANE Select	ENSP00000265686.3:p.Tyr512=
ENST00000265686.7:c.1536C>T	ENSP00000265686.3:p.Tyr512=
ENST00000525516.1:n.330C>T
ENST00000525724.5:n.848C>T
ENST00000528981.5:c.688C>T
ENST00000532635.5:c.888C>T	ENSP00000434407.1:p.Tyr296=
ENST00000533005.5:n.649C>T
NM_006019.3:c.1536C>T	NP_006010.2:p.Tyr512=
NM_006053.3:c.888C>T	NP_006044.1:p.Tyr296=
XM_005273709.2:c.1536C>T	XP_005273766.1:p.Tyr512=
XM_011544726.1:c.1536C>T	XP_011543028.1:p.Tyr512=
XM_011544727.1:c.1536C>T	XP_011543029.1:p.Tyr512=
XM_011544728.1:c.1536C>T	XP_011543030.1:p.Tyr512=
XR_949754.1:n.1540C>T
NM_001351059.1:c.642C>T	NP_001337988.1:p.Tyr214=
XM_024448320.1:c.1629C>T	XP_024304088.1:p.Tyr543=
XM_024448321.1:c.1629C>T	XP_024304089.1:p.Tyr543=
XM_024448322.1:c.1629C>T	XP_024304090.1:p.Tyr543=
XM_024448323.1:c.1629C>T	XP_024304091.1:p.Tyr543=
XM_024448324.1:c.1629C>T	XP_024304092.1:p.Tyr543=
XR_001747721.2:n.1660C>T
XR_001747722.1:n.1673C>T
XR_001747723.2:n.1673C>T
XR_002957115.1:n.1751C>T
NM_006019.4:c.1536C>T MANE Select	NP_006010.2:p.Tyr512=
NM_001351059.2:c.642C>T	NP_001337988.1:p.Tyr214=
NM_006053.4:c.888C>T	NP_006044.1:p.Tyr296=