Canonical Allele Identifier: CA381584468

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2679134
• ClinVar RCV Id: RCV003464683 ; RCV003699112
• dbSNP Id: rs1855589148
• gnomAD v4: 11-68047898-C-T
• MyVariant Identifiers: chr11:g.67815365C>T (hg19) ; chr11:g.68047898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047898C>T , CM000673.2:g.68047898C>T	GRCh38
NC_000011.9:g.67815365C>T , CM000673.1:g.67815365C>T	GRCh37
NC_000011.8:g.67571941C>T	NCBI36
NG_007878.1:g.13883C>T , LRG_115:g.13883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.105C>T
ENST00000698254.1:c.1009C>T	ENSP00000513629.1:p.Gln337Ter
ENST00000698255.1:c.1429C>T	ENSP00000513630.1:p.Gln477Ter
ENST00000698256.1:c.946C>T
ENST00000698257.1:n.898C>T
ENST00000698258.1:n.615C>T
ENST00000698259.1:n.381C>T
ENST00000265686.8:c.1480C>T MANE Select	ENSP00000265686.3:p.Gln494Ter
ENST00000265686.7:c.1480C>T	ENSP00000265686.3:p.Gln494Ter
ENST00000525516.1:n.274C>T
ENST00000525724.5:n.792C>T
ENST00000528981.5:c.632C>T
ENST00000532635.5:c.832C>T	ENSP00000434407.1:p.Gln278Ter
ENST00000533005.5:n.593C>T
NM_006019.3:c.1480C>T	NP_006010.2:p.Gln494Ter
NM_006053.3:c.832C>T	NP_006044.1:p.Gln278Ter
XM_005273709.2:c.1480C>T	XP_005273766.1:p.Gln494Ter
XM_011544726.1:c.1480C>T	XP_011543028.1:p.Gln494Ter
XM_011544727.1:c.1480C>T	XP_011543029.1:p.Gln494Ter
XM_011544728.1:c.1480C>T	XP_011543030.1:p.Gln494Ter
XR_949754.1:n.1484C>T
NM_001351059.1:c.586C>T	NP_001337988.1:p.Gln196Ter
XM_024448320.1:c.1573C>T	XP_024304088.1:p.Gln525Ter
XM_024448321.1:c.1573C>T	XP_024304089.1:p.Gln525Ter
XM_024448322.1:c.1573C>T	XP_024304090.1:p.Gln525Ter
XM_024448323.1:c.1573C>T	XP_024304091.1:p.Gln525Ter
XM_024448324.1:c.1573C>T	XP_024304092.1:p.Gln525Ter
XR_001747721.2:n.1604C>T
XR_001747722.1:n.1617C>T
XR_001747723.2:n.1617C>T
XR_002957115.1:n.1695C>T
NM_006019.4:c.1480C>T MANE Select	NP_006010.2:p.Gln494Ter
NM_001351059.2:c.586C>T	NP_001337988.1:p.Gln196Ter
NM_006053.4:c.832C>T	NP_006044.1:p.Gln278Ter