Canonical Allele Identifier: CA6147205

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1647083
• ClinVar RCV Id: RCV002138921
• dbSNP Id: rs534950651
• ExAC: 11:67816414 G / C
• gnomAD v2: 11-67816414-G-C
• gnomAD v4: 11-68048947-G-C
• MyVariant Identifiers: chr11:g.67816414G>C (hg19) ; chr11:g.68048947G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048947G>C , CM000673.2:g.68048947G>C	GRCh38
NC_000011.9:g.67816414G>C , CM000673.1:g.67816414G>C	GRCh37
NC_000011.8:g.67572990G>C	NCBI36
NG_007878.1:g.14932G>C , LRG_115:g.14932G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.248G>C
ENST00000698254.1:c.1152G>C	ENSP00000513629.1:p.Leu384=
ENST00000698255.1:c.1572G>C	ENSP00000513630.1:p.Leu524=
ENST00000698256.1:c.1089G>C
ENST00000698257.1:n.1041G>C
ENST00000698258.1:n.758G>C
ENST00000698259.1:n.524G>C
ENST00000265686.8:c.1623G>C MANE Select	ENSP00000265686.3:p.Leu541=
ENST00000265686.7:c.1623G>C	ENSP00000265686.3:p.Leu541=
ENST00000525724.5:n.935G>C
ENST00000532635.5:c.975G>C	ENSP00000434407.1:p.Leu325=
ENST00000533005.5:n.736G>C
NM_006019.3:c.1623G>C	NP_006010.2:p.Leu541=
NM_006053.3:c.975G>C	NP_006044.1:p.Leu325=
XM_005273709.2:c.1623G>C	XP_005273766.1:p.Leu541=
XM_011544726.1:c.1623G>C	XP_011543028.1:p.Leu541=
XM_011544727.1:c.1623G>C	XP_011543029.1:p.Leu541=
XM_011544728.1:c.1623G>C	XP_011543030.1:p.Leu541=
XR_949754.1:n.1627G>C
NM_001351059.1:c.729G>C	NP_001337988.1:p.Leu243=
XM_024448320.1:c.1716G>C	XP_024304088.1:p.Leu572=
XM_024448321.1:c.1716G>C	XP_024304089.1:p.Leu572=
XM_024448322.1:c.1716G>C	XP_024304090.1:p.Leu572=
XM_024448323.1:c.1716G>C	XP_024304091.1:p.Leu572=
XM_024448324.1:c.1716G>C	XP_024304092.1:p.Leu572=
XR_001747721.2:n.1747G>C
XR_001747722.1:n.1760G>C
XR_001747723.2:n.1760G>C
XR_002957115.1:n.1838G>C
NM_006019.4:c.1623G>C MANE Select	NP_006010.2:p.Leu541=
NM_001351059.2:c.729G>C	NP_001337988.1:p.Leu243=
NM_006053.4:c.975G>C	NP_006044.1:p.Leu325=