Canonical Allele Identifier: CA6147109

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1439289
• ClinVar RCV Id: RCV001949188 ; RCV002492032
• dbSNP Id: rs537359796
• ExAC: 11:67815246 G / A
• gnomAD v2: 11-67815246-G-A
• gnomAD v3: 11-68047779-G-A
• gnomAD v4: 11-68047779-G-A
• MyVariant Identifiers: chr11:g.67815246G>A (hg19) ; chr11:g.68047779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047779G>A , CM000673.2:g.68047779G>A	GRCh38
NC_000011.9:g.67815246G>A , CM000673.1:g.67815246G>A	GRCh37
NC_000011.8:g.67571822G>A	NCBI36
NG_007878.1:g.13764G>A , LRG_115:g.13764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.63G>A
ENST00000698254.1:c.967G>A	ENSP00000513629.1:p.Ala323Thr
ENST00000698255.1:c.1387G>A	ENSP00000513630.1:p.Ala463Thr
ENST00000698256.1:c.904G>A
ENST00000698257.1:n.856G>A
ENST00000698258.1:n.496G>A
ENST00000698259.1:n.262G>A
ENST00000265686.8:c.1438G>A MANE Select	ENSP00000265686.3:p.Ala480Thr
ENST00000265686.7:c.1438G>A	ENSP00000265686.3:p.Ala480Thr
ENST00000525516.1:n.232G>A
ENST00000525724.5:n.750G>A
ENST00000528981.5:c.590G>A
ENST00000529364.1:c.849G>A
ENST00000532635.5:c.790G>A	ENSP00000434407.1:p.Ala264Thr
ENST00000533005.5:n.474G>A
NM_006019.3:c.1438G>A	NP_006010.2:p.Ala480Thr
NM_006053.3:c.790G>A	NP_006044.1:p.Ala264Thr
XM_005273709.2:c.1438G>A	XP_005273766.1:p.Ala480Thr
XM_011544726.1:c.1438G>A	XP_011543028.1:p.Ala480Thr
XM_011544727.1:c.1438G>A	XP_011543029.1:p.Ala480Thr
XM_011544728.1:c.1438G>A	XP_011543030.1:p.Ala480Thr
XM_011544729.1:c.1454G>A	XP_011543031.1:p.Arg485His
XR_949754.1:n.1442G>A
NM_001351059.1:c.544G>A	NP_001337988.1:p.Ala182Thr
XM_024448320.1:c.1454G>A	XP_024304088.1:p.Arg485His
XM_024448321.1:c.1454G>A	XP_024304089.1:p.Arg485His
XM_024448322.1:c.1454G>A	XP_024304090.1:p.Arg485His
XM_024448323.1:c.1454G>A	XP_024304091.1:p.Arg485His
XM_024448324.1:c.1454G>A	XP_024304092.1:p.Arg485His
XR_001747721.2:n.1562G>A
XR_001747722.1:n.1575G>A
XR_001747723.2:n.1575G>A
XR_002957115.1:n.1576G>A
NM_006019.4:c.1438G>A MANE Select	NP_006010.2:p.Ala480Thr
NM_001351059.2:c.544G>A	NP_001337988.1:p.Ala182Thr
NM_006053.4:c.790G>A	NP_006044.1:p.Ala264Thr