Canonical Allele Identifier: CA381584574

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 884157
• ClinVar RCV Id: RCV001115089
• dbSNP Id: rs1855591352
• gnomAD v4: 11-68047929-T-A
• MyVariant Identifiers: chr11:g.67815396T>A (hg19) ; chr11:g.68047929T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047929T>A , CM000673.2:g.68047929T>A	GRCh38
NC_000011.9:g.67815396T>A , CM000673.1:g.67815396T>A	GRCh37
NC_000011.8:g.67571972T>A	NCBI36
NG_007878.1:g.13914T>A , LRG_115:g.13914T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.136T>A
ENST00000698254.1:c.1040T>A	ENSP00000513629.1:p.Val347Asp
ENST00000698255.1:c.1460T>A	ENSP00000513630.1:p.Val487Asp
ENST00000698256.1:c.977T>A
ENST00000698257.1:n.929T>A
ENST00000698258.1:n.646T>A
ENST00000698259.1:n.412T>A
ENST00000265686.8:c.1511T>A MANE Select	ENSP00000265686.3:p.Val504Asp
ENST00000265686.7:c.1511T>A	ENSP00000265686.3:p.Val504Asp
ENST00000525516.1:n.305T>A
ENST00000525724.5:n.823T>A
ENST00000528981.5:c.663T>A
ENST00000532635.5:c.863T>A	ENSP00000434407.1:p.Val288Asp
ENST00000533005.5:n.624T>A
NM_006019.3:c.1511T>A	NP_006010.2:p.Val504Asp
NM_006053.3:c.863T>A	NP_006044.1:p.Val288Asp
XM_005273709.2:c.1511T>A	XP_005273766.1:p.Val504Asp
XM_011544726.1:c.1511T>A	XP_011543028.1:p.Val504Asp
XM_011544727.1:c.1511T>A	XP_011543029.1:p.Val504Asp
XM_011544728.1:c.1511T>A	XP_011543030.1:p.Val504Asp
XR_949754.1:n.1515T>A
NM_001351059.1:c.617T>A	NP_001337988.1:p.Val206Asp
XM_024448320.1:c.1604T>A	XP_024304088.1:p.Val535Asp
XM_024448321.1:c.1604T>A	XP_024304089.1:p.Val535Asp
XM_024448322.1:c.1604T>A	XP_024304090.1:p.Val535Asp
XM_024448323.1:c.1604T>A	XP_024304091.1:p.Val535Asp
XM_024448324.1:c.1604T>A	XP_024304092.1:p.Val535Asp
XR_001747721.2:n.1635T>A
XR_001747722.1:n.1648T>A
XR_001747723.2:n.1648T>A
XR_002957115.1:n.1726T>A
NM_006019.4:c.1511T>A MANE Select	NP_006010.2:p.Val504Asp
NM_001351059.2:c.617T>A	NP_001337988.1:p.Val206Asp
NM_006053.4:c.863T>A	NP_006044.1:p.Val288Asp