Canonical Allele Identifier: CA6147202

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 284427
• ClinVar RCV Id: RCV000327113 ; RCV001109451
• dbSNP Id: rs142539969
• ExAC: 11:67816406 G / A
• gnomAD v2: 11-67816406-G-A
• gnomAD v3: 11-68048939-G-A
• gnomAD v4: 11-68048939-G-A
• MyVariant Identifiers: chr11:g.67816406G>A (hg19) ; chr11:g.68048939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048939G>A , CM000673.2:g.68048939G>A	GRCh38
NC_000011.9:g.67816406G>A , CM000673.1:g.67816406G>A	GRCh37
NC_000011.8:g.67572982G>A	NCBI36
NG_007878.1:g.14924G>A , LRG_115:g.14924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.240G>A
ENST00000698254.1:c.1144G>A	ENSP00000513629.1:p.Val382Ile
ENST00000698255.1:c.1564G>A	ENSP00000513630.1:p.Val522Ile
ENST00000698256.1:c.1081G>A
ENST00000698257.1:n.1033G>A
ENST00000698258.1:n.750G>A
ENST00000698259.1:n.516G>A
ENST00000265686.8:c.1615G>A MANE Select	ENSP00000265686.3:p.Val539Ile
ENST00000265686.7:c.1615G>A	ENSP00000265686.3:p.Val539Ile
ENST00000525724.5:n.927G>A
ENST00000532635.5:c.967G>A	ENSP00000434407.1:p.Val323Ile
ENST00000533005.5:n.728G>A
NM_006019.3:c.1615G>A	NP_006010.2:p.Val539Ile
NM_006053.3:c.967G>A	NP_006044.1:p.Val323Ile
XM_005273709.2:c.1615G>A	XP_005273766.1:p.Val539Ile
XM_011544726.1:c.1615G>A	XP_011543028.1:p.Val539Ile
XM_011544727.1:c.1615G>A	XP_011543029.1:p.Val539Ile
XM_011544728.1:c.1615G>A	XP_011543030.1:p.Val539Ile
XR_949754.1:n.1619G>A
NM_001351059.1:c.721G>A	NP_001337988.1:p.Val241Ile
XM_024448320.1:c.1708G>A	XP_024304088.1:p.Val570Ile
XM_024448321.1:c.1708G>A	XP_024304089.1:p.Val570Ile
XM_024448322.1:c.1708G>A	XP_024304090.1:p.Val570Ile
XM_024448323.1:c.1708G>A	XP_024304091.1:p.Val570Ile
XM_024448324.1:c.1708G>A	XP_024304092.1:p.Val570Ile
XR_001747721.2:n.1739G>A
XR_001747722.1:n.1752G>A
XR_001747723.2:n.1752G>A
XR_002957115.1:n.1830G>A
NM_006019.4:c.1615G>A MANE Select	NP_006010.2:p.Val539Ile
NM_001351059.2:c.721G>A	NP_001337988.1:p.Val241Ile
NM_006053.4:c.967G>A	NP_006044.1:p.Val323Ile