Canonical Allele Identifier: CA6147075

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2537563
• ClinVar RCV Id: RCV003256096
• dbSNP Id: rs752451271
• ExAC: 11:67815121 A / G
• gnomAD v2: 11-67815121-A-G
• gnomAD v3: 11-68047654-A-G
• gnomAD v4: 11-68047654-A-G
• MyVariant Identifiers: chr11:g.67815121A>G (hg19) ; chr11:g.68047654A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047654A>G , CM000673.2:g.68047654A>G	GRCh38
NC_000011.9:g.67815121A>G , CM000673.1:g.67815121A>G	GRCh37
NC_000011.8:g.67571697A>G	NCBI36
NG_007878.1:g.13639A>G , LRG_115:g.13639A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698254.1:c.842A>G	ENSP00000513629.1:p.Gln281Arg
ENST00000698255.1:c.1262A>G	ENSP00000513630.1:p.Gln421Arg
ENST00000698256.1:c.779A>G
ENST00000698257.1:n.731A>G
ENST00000698258.1:n.371A>G
ENST00000698259.1:n.137A>G
ENST00000265686.8:c.1313A>G MANE Select	ENSP00000265686.3:p.Gln438Arg
ENST00000265686.7:c.1313A>G	ENSP00000265686.3:p.Gln438Arg
ENST00000525516.1:n.107A>G
ENST00000525724.5:n.625A>G
ENST00000528981.5:c.465A>G
ENST00000529364.1:c.724A>G
ENST00000532635.5:c.665A>G	ENSP00000434407.1:p.Gln222Arg
ENST00000533005.5:n.349A>G
NM_006019.3:c.1313A>G	NP_006010.2:p.Gln438Arg
NM_006053.3:c.665A>G	NP_006044.1:p.Gln222Arg
XM_005273709.2:c.1313A>G	XP_005273766.1:p.Gln438Arg
XM_011544726.1:c.1313A>G	XP_011543028.1:p.Gln438Arg
XM_011544727.1:c.1313A>G	XP_011543029.1:p.Gln438Arg
XM_011544728.1:c.1313A>G	XP_011543030.1:p.Gln438Arg
XM_011544729.1:c.1329A>G	XP_011543031.1:p.Ala443=
XR_949754.1:n.1317A>G
NM_001351059.1:c.419A>G	NP_001337988.1:p.Gln140Arg
XM_024448320.1:c.1329A>G	XP_024304088.1:p.Ala443=
XM_024448321.1:c.1329A>G	XP_024304089.1:p.Ala443=
XM_024448322.1:c.1329A>G	XP_024304090.1:p.Ala443=
XM_024448323.1:c.1329A>G	XP_024304091.1:p.Ala443=
XM_024448324.1:c.1329A>G	XP_024304092.1:p.Ala443=
XR_001747721.2:n.1437A>G
XR_001747722.1:n.1450A>G
XR_001747723.2:n.1450A>G
XR_002957115.1:n.1451A>G
NM_006019.4:c.1313A>G MANE Select	NP_006010.2:p.Gln438Arg
NM_001351059.2:c.419A>G	NP_001337988.1:p.Gln140Arg
NM_006053.4:c.665A>G	NP_006044.1:p.Gln222Arg