Canonical Allele Identifier: CA170625

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 127173
• ClinVar RCV Id: RCV000224333 ; RCV000133575 ; RCV000663355
• dbSNP Id: rs587779413
• MyVariant Identifiers: chr11:g.67817691C>A (hg19) ; chr11:g.68050224C>A (hg38)
• PubMed: PMID:24753205

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68050224C>A , CM000673.2:g.68050224C>A	GRCh38
NC_000011.9:g.67817691C>A , CM000673.1:g.67817691C>A	GRCh37
NC_000011.8:g.67574267C>A	NCBI36
NG_007878.1:g.16209C>A , LRG_115:g.16209C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.1199C>A
ENST00000698254.1:c.1735C>A	ENSP00000513629.1:p.Arg579Ser
ENST00000698255.1:c.2155C>A	ENSP00000513630.1:p.Arg719Ser
ENST00000698256.1:c.1672C>A
ENST00000698257.1:n.1624C>A
ENST00000698258.1:n.1341C>A
ENST00000698259.1:n.1475C>A
ENST00000265686.8:c.2206C>A MANE Select	ENSP00000265686.3:p.Arg736Ser
ENST00000265686.7:c.2206C>A	ENSP00000265686.3:p.Arg736Ser
ENST00000525724.5:n.1518C>A
ENST00000530063.1:c.109C>A	ENSP00000432957.1:p.Arg37Ser
ENST00000530449.1:n.102C>A
ENST00000532635.5:c.1558C>A	ENSP00000434407.1:p.Arg520Ser
ENST00000533005.5:n.1319C>A
NM_006019.3:c.2206C>A	NP_006010.2:p.Arg736Ser
NM_006053.3:c.1558C>A	NP_006044.1:p.Arg520Ser
XM_005273709.2:c.2206C>A	XP_005273766.1:p.Arg736Ser
XM_011544726.1:c.2206C>A	XP_011543028.1:p.Arg736Ser
XM_011544727.1:c.2206C>A	XP_011543029.1:p.Arg736Ser
XR_949754.1:n.2353C>A
NM_001351059.1:c.1312C>A	NP_001337988.1:p.Arg438Ser
XM_024448320.1:c.2299C>A	XP_024304088.1:p.Arg767Ser
XM_024448321.1:c.2299C>A	XP_024304089.1:p.Arg767Ser
XM_024448322.1:c.2299C>A	XP_024304090.1:p.Arg767Ser
XM_024448323.1:c.2299C>A	XP_024304091.1:p.Arg767Ser
XR_001747721.2:n.2375C>A
XR_001747722.1:n.2343C>A
XR_001747723.2:n.2388C>A
XR_002957115.1:n.2564C>A
NM_006019.4:c.2206C>A MANE Select	NP_006010.2:p.Arg736Ser
NM_001351059.2:c.1312C>A	NP_001337988.1:p.Arg438Ser
NM_006053.4:c.1558C>A	NP_006044.1:p.Arg520Ser