Canonical Allele Identifier: CA6147141

Gene: TCIRG1

Linked Data

• dbSNP Id: rs763082676
• ExAC: 11:67815371 A / G
• gnomAD v2: 11-67815371-A-G
• gnomAD v4: 11-68047904-A-G
• MyVariant Identifiers: chr11:g.67815371A>G (hg19) ; chr11:g.68047904A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047904A>G , CM000673.2:g.68047904A>G	GRCh38
NC_000011.9:g.67815371A>G , CM000673.1:g.67815371A>G	GRCh37
NC_000011.8:g.67571947A>G	NCBI36
NG_007878.1:g.13889A>G , LRG_115:g.13889A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.111A>G
ENST00000698254.1:c.1015A>G	ENSP00000513629.1:p.Thr339Ala
ENST00000698255.1:c.1435A>G	ENSP00000513630.1:p.Thr479Ala
ENST00000698256.1:c.952A>G
ENST00000698257.1:n.904A>G
ENST00000698258.1:n.621A>G
ENST00000698259.1:n.387A>G
ENST00000265686.8:c.1486A>G MANE Select	ENSP00000265686.3:p.Thr496Ala
ENST00000265686.7:c.1486A>G	ENSP00000265686.3:p.Thr496Ala
ENST00000525516.1:n.280A>G
ENST00000525724.5:n.798A>G
ENST00000528981.5:c.638A>G
ENST00000532635.5:c.838A>G	ENSP00000434407.1:p.Thr280Ala
ENST00000533005.5:n.599A>G
NM_006019.3:c.1486A>G	NP_006010.2:p.Thr496Ala
NM_006053.3:c.838A>G	NP_006044.1:p.Thr280Ala
XM_005273709.2:c.1486A>G	XP_005273766.1:p.Thr496Ala
XM_011544726.1:c.1486A>G	XP_011543028.1:p.Thr496Ala
XM_011544727.1:c.1486A>G	XP_011543029.1:p.Thr496Ala
XM_011544728.1:c.1486A>G	XP_011543030.1:p.Thr496Ala
XR_949754.1:n.1490A>G
NM_001351059.1:c.592A>G	NP_001337988.1:p.Thr198Ala
XM_024448320.1:c.1579A>G	XP_024304088.1:p.Thr527Ala
XM_024448321.1:c.1579A>G	XP_024304089.1:p.Thr527Ala
XM_024448322.1:c.1579A>G	XP_024304090.1:p.Thr527Ala
XM_024448323.1:c.1579A>G	XP_024304091.1:p.Thr527Ala
XM_024448324.1:c.1579A>G	XP_024304092.1:p.Thr527Ala
XR_001747721.2:n.1610A>G
XR_001747722.1:n.1623A>G
XR_001747723.2:n.1623A>G
XR_002957115.1:n.1701A>G
NM_006019.4:c.1486A>G MANE Select	NP_006010.2:p.Thr496Ala
NM_001351059.2:c.592A>G	NP_001337988.1:p.Thr198Ala
NM_006053.4:c.838A>G	NP_006044.1:p.Thr280Ala