Canonical Allele Identifier: CA6147143

Gene: TCIRG1

Linked Data

• dbSNP Id: rs141474168
• ExAC: 11:67815372 C / G
• gnomAD v2: 11-67815372-C-G
• gnomAD v4: 11-68047905-C-G
• MyVariant Identifiers: chr11:g.67815372C>G (hg19) ; chr11:g.68047905C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047905C>G , CM000673.2:g.68047905C>G	GRCh38
NC_000011.9:g.67815372C>G , CM000673.1:g.67815372C>G	GRCh37
NC_000011.8:g.67571948C>G	NCBI36
NG_007878.1:g.13890C>G , LRG_115:g.13890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.112C>G
ENST00000698254.1:c.1016C>G	ENSP00000513629.1:p.Thr339Arg
ENST00000698255.1:c.1436C>G	ENSP00000513630.1:p.Thr479Arg
ENST00000698256.1:c.953C>G
ENST00000698257.1:n.905C>G
ENST00000698258.1:n.622C>G
ENST00000698259.1:n.388C>G
ENST00000265686.8:c.1487C>G MANE Select	ENSP00000265686.3:p.Thr496Arg
ENST00000265686.7:c.1487C>G	ENSP00000265686.3:p.Thr496Arg
ENST00000525516.1:n.281C>G
ENST00000525724.5:n.799C>G
ENST00000528981.5:c.639C>G
ENST00000532635.5:c.839C>G	ENSP00000434407.1:p.Thr280Arg
ENST00000533005.5:n.600C>G
NM_006019.3:c.1487C>G	NP_006010.2:p.Thr496Arg
NM_006053.3:c.839C>G	NP_006044.1:p.Thr280Arg
XM_005273709.2:c.1487C>G	XP_005273766.1:p.Thr496Arg
XM_011544726.1:c.1487C>G	XP_011543028.1:p.Thr496Arg
XM_011544727.1:c.1487C>G	XP_011543029.1:p.Thr496Arg
XM_011544728.1:c.1487C>G	XP_011543030.1:p.Thr496Arg
XR_949754.1:n.1491C>G
NM_001351059.1:c.593C>G	NP_001337988.1:p.Thr198Arg
XM_024448320.1:c.1580C>G	XP_024304088.1:p.Thr527Arg
XM_024448321.1:c.1580C>G	XP_024304089.1:p.Thr527Arg
XM_024448322.1:c.1580C>G	XP_024304090.1:p.Thr527Arg
XM_024448323.1:c.1580C>G	XP_024304091.1:p.Thr527Arg
XM_024448324.1:c.1580C>G	XP_024304092.1:p.Thr527Arg
XR_001747721.2:n.1611C>G
XR_001747722.1:n.1624C>G
XR_001747723.2:n.1624C>G
XR_002957115.1:n.1702C>G
NM_006019.4:c.1487C>G MANE Select	NP_006010.2:p.Thr496Arg
NM_001351059.2:c.593C>G	NP_001337988.1:p.Thr198Arg
NM_006053.4:c.839C>G	NP_006044.1:p.Thr280Arg