Canonical Allele Identifier: CA6147209

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2146644
• ClinVar RCV Id: RCV003067236 ; RCV003076778
• dbSNP Id: rs371505143
• ExAC: 11:67816421 G / C
• gnomAD v2: 11-67816421-G-C
• gnomAD v3: 11-68048954-G-C
• gnomAD v4: 11-68048954-G-C
• MyVariant Identifiers: chr11:g.67816421G>C (hg19) ; chr11:g.68048954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048954G>C , CM000673.2:g.68048954G>C	GRCh38
NC_000011.9:g.67816421G>C , CM000673.1:g.67816421G>C	GRCh37
NC_000011.8:g.67572997G>C	NCBI36
NG_007878.1:g.14939G>C , LRG_115:g.14939G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.255G>C
ENST00000698254.1:c.1159G>C	ENSP00000513629.1:p.Val387Leu
ENST00000698255.1:c.1579G>C	ENSP00000513630.1:p.Val527Leu
ENST00000698256.1:c.1096G>C
ENST00000698257.1:n.1048G>C
ENST00000698258.1:n.765G>C
ENST00000698259.1:n.531G>C
ENST00000265686.8:c.1630G>C MANE Select	ENSP00000265686.3:p.Val544Leu
ENST00000265686.7:c.1630G>C	ENSP00000265686.3:p.Val544Leu
ENST00000525724.5:n.942G>C
ENST00000532635.5:c.982G>C	ENSP00000434407.1:p.Val328Leu
ENST00000533005.5:n.743G>C
NM_006019.3:c.1630G>C	NP_006010.2:p.Val544Leu
NM_006053.3:c.982G>C	NP_006044.1:p.Val328Leu
XM_005273709.2:c.1630G>C	XP_005273766.1:p.Val544Leu
XM_011544726.1:c.1630G>C	XP_011543028.1:p.Val544Leu
XM_011544727.1:c.1630G>C	XP_011543029.1:p.Val544Leu
XM_011544728.1:c.1630G>C	XP_011543030.1:p.Val544Leu
XR_949754.1:n.1634G>C
NM_001351059.1:c.736G>C	NP_001337988.1:p.Val246Leu
XM_024448320.1:c.1723G>C	XP_024304088.1:p.Val575Leu
XM_024448321.1:c.1723G>C	XP_024304089.1:p.Val575Leu
XM_024448322.1:c.1723G>C	XP_024304090.1:p.Val575Leu
XM_024448323.1:c.1723G>C	XP_024304091.1:p.Val575Leu
XM_024448324.1:c.1723G>C	XP_024304092.1:p.Val575Leu
XR_001747721.2:n.1754G>C
XR_001747722.1:n.1767G>C
XR_001747723.2:n.1767G>C
XR_002957115.1:n.1845G>C
NM_006019.4:c.1630G>C MANE Select	NP_006010.2:p.Val544Leu
NM_001351059.2:c.736G>C	NP_001337988.1:p.Val246Leu
NM_006053.4:c.982G>C	NP_006044.1:p.Val328Leu