Canonical Allele Identifier: CA117545

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 5463
• ClinVar RCV Id: RCV000005796 ; RCV001390427 ; RCV002307355
• dbSNP Id: rs137853150
• ExAC: 11:67814947 G / A
• gnomAD v2: 11-67814947-G-A
• gnomAD v3: 11-68047480-G-A
• gnomAD v4: 11-68047480-G-A
• MyVariant Identifiers: chr11:g.67814947G>A (hg19) ; chr11:g.68047480G>A (hg38)
• PubMed: PMID:11532986 ; PMID:12552563

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047480G>A , CM000673.2:g.68047480G>A	GRCh38
NC_000011.9:g.67814947G>A , CM000673.1:g.67814947G>A	GRCh37
NC_000011.8:g.67571523G>A	NCBI36
NG_007878.1:g.13465G>A , LRG_115:g.13465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698254.1:c.742G>A	ENSP00000513629.1:p.Gly248Arg
ENST00000698255.1:c.1162G>A	ENSP00000513630.1:p.Gly388Arg
ENST00000698256.1:c.679G>A
ENST00000698257.1:n.631G>A
ENST00000698258.1:n.197G>A
ENST00000698259.1:n.37G>A
ENST00000265686.8:c.1213G>A MANE Select	ENSP00000265686.3:p.Gly405Arg
ENST00000265686.7:c.1213G>A	ENSP00000265686.3:p.Gly405Arg
ENST00000525516.1:n.7G>A
ENST00000525724.5:n.525G>A
ENST00000528981.5:c.365G>A
ENST00000529364.1:c.624G>A
ENST00000532635.5:c.565G>A	ENSP00000434407.1:p.Gly189Arg
ENST00000533005.5:n.249G>A
NM_006019.3:c.1213G>A	NP_006010.2:p.Gly405Arg
NM_006053.3:c.565G>A	NP_006044.1:p.Gly189Arg
XM_005273709.2:c.1213G>A	XP_005273766.1:p.Gly405Arg
XM_011544726.1:c.1213G>A	XP_011543028.1:p.Gly405Arg
XM_011544727.1:c.1213G>A	XP_011543029.1:p.Gly405Arg
XM_011544728.1:c.1213G>A	XP_011543030.1:p.Gly405Arg
XM_011544729.1:c.1229G>A	XP_011543031.1:p.Arg410Gln
XR_949754.1:n.1217G>A
NM_001351059.1:c.319G>A	NP_001337988.1:p.Gly107Arg
XM_024448320.1:c.1229G>A	XP_024304088.1:p.Arg410Gln
XM_024448321.1:c.1229G>A	XP_024304089.1:p.Arg410Gln
XM_024448322.1:c.1229G>A	XP_024304090.1:p.Arg410Gln
XM_024448323.1:c.1229G>A	XP_024304091.1:p.Arg410Gln
XM_024448324.1:c.1229G>A	XP_024304092.1:p.Arg410Gln
XR_001747721.2:n.1337G>A
XR_001747722.1:n.1350G>A
XR_001747723.2:n.1350G>A
XR_002957115.1:n.1351G>A
NM_006019.4:c.1213G>A MANE Select	NP_006010.2:p.Gly405Arg
NM_001351059.2:c.319G>A	NP_001337988.1:p.Gly107Arg
NM_006053.4:c.565G>A	NP_006044.1:p.Gly189Arg