Canonical Allele Identifier: CA475449954

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1079502
• ClinVar RCV Id: RCV001394784
• dbSNP Id: rs2134459311
• gnomAD v4: 11-68048888-C-T
• MyVariant Identifiers: chr11:g.67816355C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048888C>T , CM000673.2:g.68048888C>T	GRCh38
NC_000011.9:g.67816355C>T , CM000673.1:g.67816355C>T	GRCh37
NC_000011.8:g.67572931C>T	NCBI36
NG_007878.1:g.14873C>T , LRG_115:g.14873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.189C>T
ENST00000698254.1:c.1093C>T	ENSP00000513629.1:p.Leu365=
ENST00000698255.1:c.1513C>T	ENSP00000513630.1:p.Leu505=
ENST00000698256.1:c.1030C>T
ENST00000698257.1:n.982C>T
ENST00000698258.1:n.699C>T
ENST00000698259.1:n.465C>T
ENST00000265686.8:c.1564C>T MANE Select	ENSP00000265686.3:p.Leu522=
ENST00000265686.7:c.1564C>T	ENSP00000265686.3:p.Leu522=
ENST00000525724.5:n.876C>T
ENST00000528981.5:c.716C>T
ENST00000532635.5:c.916C>T	ENSP00000434407.1:p.Leu306=
ENST00000533005.5:n.677C>T
NM_006019.3:c.1564C>T	NP_006010.2:p.Leu522=
NM_006053.3:c.916C>T	NP_006044.1:p.Leu306=
XM_005273709.2:c.1564C>T	XP_005273766.1:p.Leu522=
XM_011544726.1:c.1564C>T	XP_011543028.1:p.Leu522=
XM_011544727.1:c.1564C>T	XP_011543029.1:p.Leu522=
XM_011544728.1:c.1564C>T	XP_011543030.1:p.Leu522=
XR_949754.1:n.1568C>T
NM_001351059.1:c.670C>T	NP_001337988.1:p.Leu224=
XM_024448320.1:c.1657C>T	XP_024304088.1:p.Leu553=
XM_024448321.1:c.1657C>T	XP_024304089.1:p.Leu553=
XM_024448322.1:c.1657C>T	XP_024304090.1:p.Leu553=
XM_024448323.1:c.1657C>T	XP_024304091.1:p.Leu553=
XM_024448324.1:c.1657C>T	XP_024304092.1:p.Leu553=
XR_001747721.2:n.1688C>T
XR_001747722.1:n.1701C>T
XR_001747723.2:n.1701C>T
XR_002957115.1:n.1779C>T
NM_006019.4:c.1564C>T MANE Select	NP_006010.2:p.Leu522=
NM_001351059.2:c.670C>T	NP_001337988.1:p.Leu224=
NM_006053.4:c.916C>T	NP_006044.1:p.Leu306=