Canonical Allele Identifier: CA6147147

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 305806
• ClinVar RCV Id: RCV000315991 ; RCV000593066
• dbSNP Id: rs369803798
• ExAC: 11:67815393 A / G
• gnomAD v2: 11-67815393-A-G
• gnomAD v3: 11-68047926-A-G
• gnomAD v4: 11-68047926-A-G
• MyVariant Identifiers: chr11:g.67815393A>G (hg19) ; chr11:g.68047926A>G (hg38)
• PubMed: PMID:27479843

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047926A>G , CM000673.2:g.68047926A>G	GRCh38
NC_000011.9:g.67815393A>G , CM000673.1:g.67815393A>G	GRCh37
NC_000011.8:g.67571969A>G	NCBI36
NG_007878.1:g.13911A>G , LRG_115:g.13911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.133A>G
ENST00000698254.1:c.1037A>G	ENSP00000513629.1:p.Asn346Ser
ENST00000698255.1:c.1457A>G	ENSP00000513630.1:p.Asn486Ser
ENST00000698256.1:c.974A>G
ENST00000698257.1:n.926A>G
ENST00000698258.1:n.643A>G
ENST00000698259.1:n.409A>G
ENST00000265686.8:c.1508A>G MANE Select	ENSP00000265686.3:p.Asn503Ser
ENST00000265686.7:c.1508A>G	ENSP00000265686.3:p.Asn503Ser
ENST00000525516.1:n.302A>G
ENST00000525724.5:n.820A>G
ENST00000528981.5:c.660A>G
ENST00000532635.5:c.860A>G	ENSP00000434407.1:p.Asn287Ser
ENST00000533005.5:n.621A>G
NM_006019.3:c.1508A>G	NP_006010.2:p.Asn503Ser
NM_006053.3:c.860A>G	NP_006044.1:p.Asn287Ser
XM_005273709.2:c.1508A>G	XP_005273766.1:p.Asn503Ser
XM_011544726.1:c.1508A>G	XP_011543028.1:p.Asn503Ser
XM_011544727.1:c.1508A>G	XP_011543029.1:p.Asn503Ser
XM_011544728.1:c.1508A>G	XP_011543030.1:p.Asn503Ser
XR_949754.1:n.1512A>G
NM_001351059.1:c.614A>G	NP_001337988.1:p.Asn205Ser
XM_024448320.1:c.1601A>G	XP_024304088.1:p.Asn534Ser
XM_024448321.1:c.1601A>G	XP_024304089.1:p.Asn534Ser
XM_024448322.1:c.1601A>G	XP_024304090.1:p.Asn534Ser
XM_024448323.1:c.1601A>G	XP_024304091.1:p.Asn534Ser
XM_024448324.1:c.1601A>G	XP_024304092.1:p.Asn534Ser
XR_001747721.2:n.1632A>G
XR_001747722.1:n.1645A>G
XR_001747723.2:n.1645A>G
XR_002957115.1:n.1723A>G
NM_006019.4:c.1508A>G MANE Select	NP_006010.2:p.Asn503Ser
NM_001351059.2:c.614A>G	NP_001337988.1:p.Asn205Ser
NM_006053.4:c.860A>G	NP_006044.1:p.Asn287Ser