Canonical Allele Identifier: CA199169

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 189246
• ClinVar RCV Id: RCV000169678 ; RCV000801831 ; RCV001251404 ; RCV003407630
• dbSNP Id: rs139617644
• ExAC: 11:67816547 G / A
• gnomAD v2: 11-67816547-G-A
• gnomAD v3: 11-68049080-G-A
• gnomAD v4: 11-68049080-G-A
• MyVariant Identifiers: chr11:g.67816547G>A (hg19) ; chr11:g.68049080G>A (hg38)
• PubMed: PMID:10888887

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68049080G>A , CM000673.2:g.68049080G>A	GRCh38
NC_000011.9:g.67816547G>A , CM000673.1:g.67816547G>A	GRCh37
NC_000011.8:g.67573123G>A	NCBI36
NG_007878.1:g.15065G>A , LRG_115:g.15065G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.299-1G>A
ENST00000698254.1:c.1203-1G>A	ENSP00000513629.1:n.1203-1G>A
ENST00000698255.1:c.1623-1G>A	ENSP00000513630.1:n.1623-1G>A
ENST00000698256.1:c.1140-1G>A
ENST00000698257.1:n.1092-1G>A
ENST00000698258.1:n.809-1G>A
ENST00000698259.1:n.575-1G>A
ENST00000265686.8:c.1674-1G>A MANE Select	ENSP00000265686.3:n.1674-1G>A
ENST00000265686.7:c.1674-1G>A	ENSP00000265686.3:n.1674-1G>A
ENST00000525724.5:n.986-1G>A
ENST00000532635.5:c.1026-1G>A	ENSP00000434407.1:n.1026-1G>A
ENST00000533005.5:n.787-1G>A
NM_006019.3:c.1674-1G>A	NP_006010.2:n.1674-1G>A
NM_006053.3:c.1026-1G>A	NP_006044.1:n.1026-1G>A
XM_005273709.2:c.1674-1G>A	XP_005273766.1:n.1674-1G>A
XM_011544726.1:c.1674-1G>A	XP_011543028.1:n.1674-1G>A
XM_011544727.1:c.1674-1G>A	XP_011543029.1:n.1674-1G>A
XM_011544728.1:c.1674-1G>A	XP_011543030.1:n.1674-1G>A
XR_949754.1:n.1678-1G>A
NM_001351059.1:c.780-1G>A	NP_001337988.1:n.780-1G>A
XM_024448320.1:c.1767-1G>A	XP_024304088.1:n.1767-1G>A
XM_024448321.1:c.1767-1G>A	XP_024304089.1:n.1767-1G>A
XM_024448322.1:c.1767-1G>A	XP_024304090.1:n.1767-1G>A
XM_024448323.1:c.1767-1G>A	XP_024304091.1:n.1767-1G>A
XM_024448324.1:c.1767-1G>A	XP_024304092.1:n.1767-1G>A
XR_001747721.2:n.1798-1G>A
XR_001747722.1:n.1811-1G>A
XR_001747723.2:n.1811-1G>A
XR_002957115.1:n.1889-1G>A
NM_006019.4:c.1674-1G>A MANE Select	NP_006010.2:n.1674-1G>A
NM_001351059.2:c.780-1G>A	NP_001337988.1:n.780-1G>A
NM_006053.4:c.1026-1G>A	NP_006044.1:n.1026-1G>A