Canonical Allele Identifier: CA224208244

Gene: TCIRG1

Linked Data

• dbSNP Id: rs753947773
• gnomAD v3: 11-68047677-C-T
• gnomAD v4: 11-68047677-C-T
• MyVariant Identifiers: chr11:g.67815144C>T (hg19) ; chr11:g.68047677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047677C>T , CM000673.2:g.68047677C>T	GRCh38
NC_000011.9:g.67815144C>T , CM000673.1:g.67815144C>T	GRCh37
NC_000011.8:g.67571720C>T	NCBI36
NG_007878.1:g.13662C>T , LRG_115:g.13662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698254.1:c.865C>T	ENSP00000513629.1:p.Leu289=
ENST00000698255.1:c.1285C>T	ENSP00000513630.1:p.Leu429=
ENST00000698256.1:c.802C>T
ENST00000698257.1:n.754C>T
ENST00000698258.1:n.394C>T
ENST00000698259.1:n.160C>T
ENST00000265686.8:c.1336C>T MANE Select	ENSP00000265686.3:p.Leu446=
ENST00000265686.7:c.1336C>T	ENSP00000265686.3:p.Leu446=
ENST00000525516.1:n.130C>T
ENST00000525724.5:n.648C>T
ENST00000528981.5:c.488C>T
ENST00000529364.1:c.747C>T
ENST00000532635.5:c.688C>T	ENSP00000434407.1:p.Leu230=
ENST00000533005.5:n.372C>T
NM_006019.3:c.1336C>T	NP_006010.2:p.Leu446=
NM_006053.3:c.688C>T	NP_006044.1:p.Leu230=
XM_005273709.2:c.1336C>T	XP_005273766.1:p.Leu446=
XM_011544726.1:c.1336C>T	XP_011543028.1:p.Leu446=
XM_011544727.1:c.1336C>T	XP_011543029.1:p.Leu446=
XM_011544728.1:c.1336C>T	XP_011543030.1:p.Leu446=
XM_011544729.1:c.1352C>T	XP_011543031.1:p.Pro451Leu
XR_949754.1:n.1340C>T
NM_001351059.1:c.442C>T	NP_001337988.1:p.Leu148=
XM_024448320.1:c.1352C>T	XP_024304088.1:p.Pro451Leu
XM_024448321.1:c.1352C>T	XP_024304089.1:p.Pro451Leu
XM_024448322.1:c.1352C>T	XP_024304090.1:p.Pro451Leu
XM_024448323.1:c.1352C>T	XP_024304091.1:p.Pro451Leu
XM_024448324.1:c.1352C>T	XP_024304092.1:p.Pro451Leu
XR_001747721.2:n.1460C>T
XR_001747722.1:n.1473C>T
XR_001747723.2:n.1473C>T
XR_002957115.1:n.1474C>T
NM_006019.4:c.1336C>T MANE Select	NP_006010.2:p.Leu446=
NM_001351059.2:c.442C>T	NP_001337988.1:p.Leu148=
NM_006053.4:c.688C>T	NP_006044.1:p.Leu230=