Canonical Allele Identifier: CA6147198

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2175503
• ClinVar RCV Id: RCV002602352
• dbSNP Id: rs371214361
• ExAC: 11:67816386 C / G
• gnomAD v2: 11-67816386-C-G
• gnomAD v3: 11-68048919-C-G
• gnomAD v4: 11-68048919-C-G
• MyVariant Identifiers: chr11:g.67816386C>G (hg19) ; chr11:g.68048919C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048919C>G , CM000673.2:g.68048919C>G	GRCh38
NC_000011.9:g.67816386C>G , CM000673.1:g.67816386C>G	GRCh37
NC_000011.8:g.67572962C>G	NCBI36
NG_007878.1:g.14904C>G , LRG_115:g.14904C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.220C>G
ENST00000698254.1:c.1124C>G	ENSP00000513629.1:p.Ser375Cys
ENST00000698255.1:c.1544C>G	ENSP00000513630.1:p.Ser515Cys
ENST00000698256.1:c.1061C>G
ENST00000698257.1:n.1013C>G
ENST00000698258.1:n.730C>G
ENST00000698259.1:n.496C>G
ENST00000265686.8:c.1595C>G MANE Select	ENSP00000265686.3:p.Ser532Cys
ENST00000265686.7:c.1595C>G	ENSP00000265686.3:p.Ser532Cys
ENST00000525724.5:n.907C>G
ENST00000528981.5:c.747C>G
ENST00000532635.5:c.947C>G	ENSP00000434407.1:p.Ser316Cys
ENST00000533005.5:n.708C>G
NM_006019.3:c.1595C>G	NP_006010.2:p.Ser532Cys
NM_006053.3:c.947C>G	NP_006044.1:p.Ser316Cys
XM_005273709.2:c.1595C>G	XP_005273766.1:p.Ser532Cys
XM_011544726.1:c.1595C>G	XP_011543028.1:p.Ser532Cys
XM_011544727.1:c.1595C>G	XP_011543029.1:p.Ser532Cys
XM_011544728.1:c.1595C>G	XP_011543030.1:p.Ser532Cys
XR_949754.1:n.1599C>G
NM_001351059.1:c.701C>G	NP_001337988.1:p.Ser234Cys
XM_024448320.1:c.1688C>G	XP_024304088.1:p.Ser563Cys
XM_024448321.1:c.1688C>G	XP_024304089.1:p.Ser563Cys
XM_024448322.1:c.1688C>G	XP_024304090.1:p.Ser563Cys
XM_024448323.1:c.1688C>G	XP_024304091.1:p.Ser563Cys
XM_024448324.1:c.1688C>G	XP_024304092.1:p.Ser563Cys
XR_001747721.2:n.1719C>G
XR_001747722.1:n.1732C>G
XR_001747723.2:n.1732C>G
XR_002957115.1:n.1810C>G
NM_006019.4:c.1595C>G MANE Select	NP_006010.2:p.Ser532Cys
NM_001351059.2:c.701C>G	NP_001337988.1:p.Ser234Cys
NM_006053.4:c.947C>G	NP_006044.1:p.Ser316Cys