Canonical Allele Identifier: CA381584527

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2201909
• ClinVar RCV Id: RCV002629843
• dbSNP Id: rs1160743125
• gnomAD v2: 11-67815383-C-G
• gnomAD v4: 11-68047916-C-G
• MyVariant Identifiers: chr11:g.67815383C>G (hg19) ; chr11:g.68047916C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047916C>G , CM000673.2:g.68047916C>G	GRCh38
NC_000011.9:g.67815383C>G , CM000673.1:g.67815383C>G	GRCh37
NC_000011.8:g.67571959C>G	NCBI36
NG_007878.1:g.13901C>G , LRG_115:g.13901C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.123C>G
ENST00000698254.1:c.1027C>G	ENSP00000513629.1:p.Leu343Val
ENST00000698255.1:c.1447C>G	ENSP00000513630.1:p.Leu483Val
ENST00000698256.1:c.964C>G
ENST00000698257.1:n.916C>G
ENST00000698258.1:n.633C>G
ENST00000698259.1:n.399C>G
ENST00000265686.8:c.1498C>G MANE Select	ENSP00000265686.3:p.Leu500Val
ENST00000265686.7:c.1498C>G	ENSP00000265686.3:p.Leu500Val
ENST00000525516.1:n.292C>G
ENST00000525724.5:n.810C>G
ENST00000528981.5:c.650C>G
ENST00000532635.5:c.850C>G	ENSP00000434407.1:p.Leu284Val
ENST00000533005.5:n.611C>G
NM_006019.3:c.1498C>G	NP_006010.2:p.Leu500Val
NM_006053.3:c.850C>G	NP_006044.1:p.Leu284Val
XM_005273709.2:c.1498C>G	XP_005273766.1:p.Leu500Val
XM_011544726.1:c.1498C>G	XP_011543028.1:p.Leu500Val
XM_011544727.1:c.1498C>G	XP_011543029.1:p.Leu500Val
XM_011544728.1:c.1498C>G	XP_011543030.1:p.Leu500Val
XR_949754.1:n.1502C>G
NM_001351059.1:c.604C>G	NP_001337988.1:p.Leu202Val
XM_024448320.1:c.1591C>G	XP_024304088.1:p.Leu531Val
XM_024448321.1:c.1591C>G	XP_024304089.1:p.Leu531Val
XM_024448322.1:c.1591C>G	XP_024304090.1:p.Leu531Val
XM_024448323.1:c.1591C>G	XP_024304091.1:p.Leu531Val
XM_024448324.1:c.1591C>G	XP_024304092.1:p.Leu531Val
XR_001747721.2:n.1622C>G
XR_001747722.1:n.1635C>G
XR_001747723.2:n.1635C>G
XR_002957115.1:n.1713C>G
NM_006019.4:c.1498C>G MANE Select	NP_006010.2:p.Leu500Val
NM_001351059.2:c.604C>G	NP_001337988.1:p.Leu202Val
NM_006053.4:c.850C>G	NP_006044.1:p.Leu284Val