Canonical Allele Identifier: CA475513925

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2807998
• ClinVar RCV Id: RCV003684621
• dbSNP Id: rs756496601
• gnomAD v3: 11-68047912-T-C
• gnomAD v4: 11-68047912-T-C
• MyVariant Identifiers: chr11:g.67815379T>C (hg19) ; chr11:g.68047912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047912T>C , CM000673.2:g.68047912T>C	GRCh38
NC_000011.9:g.67815379T>C , CM000673.1:g.67815379T>C	GRCh37
NC_000011.8:g.67571955T>C	NCBI36
NG_007878.1:g.13897T>C , LRG_115:g.13897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.119T>C
ENST00000698254.1:c.1023T>C	ENSP00000513629.1:p.Leu341=
ENST00000698255.1:c.1443T>C	ENSP00000513630.1:p.Leu481=
ENST00000698256.1:c.960T>C
ENST00000698257.1:n.912T>C
ENST00000698258.1:n.629T>C
ENST00000698259.1:n.395T>C
ENST00000265686.8:c.1494T>C MANE Select	ENSP00000265686.3:p.Leu498=
ENST00000265686.7:c.1494T>C	ENSP00000265686.3:p.Leu498=
ENST00000525516.1:n.288T>C
ENST00000525724.5:n.806T>C
ENST00000528981.5:c.646T>C
ENST00000532635.5:c.846T>C	ENSP00000434407.1:p.Leu282=
ENST00000533005.5:n.607T>C
NM_006019.3:c.1494T>C	NP_006010.2:p.Leu498=
NM_006053.3:c.846T>C	NP_006044.1:p.Leu282=
XM_005273709.2:c.1494T>C	XP_005273766.1:p.Leu498=
XM_011544726.1:c.1494T>C	XP_011543028.1:p.Leu498=
XM_011544727.1:c.1494T>C	XP_011543029.1:p.Leu498=
XM_011544728.1:c.1494T>C	XP_011543030.1:p.Leu498=
XR_949754.1:n.1498T>C
NM_001351059.1:c.600T>C	NP_001337988.1:p.Leu200=
XM_024448320.1:c.1587T>C	XP_024304088.1:p.Leu529=
XM_024448321.1:c.1587T>C	XP_024304089.1:p.Leu529=
XM_024448322.1:c.1587T>C	XP_024304090.1:p.Leu529=
XM_024448323.1:c.1587T>C	XP_024304091.1:p.Leu529=
XM_024448324.1:c.1587T>C	XP_024304092.1:p.Leu529=
XR_001747721.2:n.1618T>C
XR_001747722.1:n.1631T>C
XR_001747723.2:n.1631T>C
XR_002957115.1:n.1709T>C
NM_006019.4:c.1494T>C MANE Select	NP_006010.2:p.Leu498=
NM_001351059.2:c.600T>C	NP_001337988.1:p.Leu200=
NM_006053.4:c.846T>C	NP_006044.1:p.Leu282=