Canonical Allele Identifier: CA6147132

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1154327
• ClinVar RCV Id: RCV001496299
• dbSNP Id: rs747745829
• ExAC: 11:67815341 T / G
• gnomAD v2: 11-67815341-T-G
• gnomAD v3: 11-68047874-T-G
• gnomAD v4: 11-68047874-T-G
• MyVariant Identifiers: chr11:g.67815341T>G (hg19) ; chr11:g.68047874T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047874T>G , CM000673.2:g.68047874T>G	GRCh38
NC_000011.9:g.67815341T>G , CM000673.1:g.67815341T>G	GRCh37
NC_000011.8:g.67571917T>G	NCBI36
NG_007878.1:g.13859T>G , LRG_115:g.13859T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.89-8T>G
ENST00000698254.1:c.993-8T>G	ENSP00000513629.1:n.993-8T>G
ENST00000698255.1:c.1413-8T>G	ENSP00000513630.1:n.1413-8T>G
ENST00000698256.1:c.930-8T>G
ENST00000698257.1:n.882-8T>G
ENST00000698258.1:n.591T>G
ENST00000698259.1:n.357T>G
ENST00000265686.8:c.1464-8T>G MANE Select	ENSP00000265686.3:n.1464-8T>G
ENST00000265686.7:c.1464-8T>G	ENSP00000265686.3:n.1464-8T>G
ENST00000525516.1:n.258-8T>G
ENST00000525724.5:n.776-8T>G
ENST00000528981.5:c.616-8T>G
ENST00000532635.5:c.816-8T>G	ENSP00000434407.1:n.816-8T>G
ENST00000533005.5:n.569T>G
NM_006019.3:c.1464-8T>G	NP_006010.2:n.1464-8T>G
NM_006053.3:c.816-8T>G	NP_006044.1:n.816-8T>G
XM_005273709.2:c.1464-8T>G	XP_005273766.1:n.1464-8T>G
XM_011544726.1:c.1464-8T>G	XP_011543028.1:n.1464-8T>G
XM_011544727.1:c.1464-8T>G	XP_011543029.1:n.1464-8T>G
XM_011544728.1:c.1464-8T>G	XP_011543030.1:n.1464-8T>G
XM_011544729.1:c.1480-8T>G	XP_011543031.1:n.1480-8T>G
XR_949754.1:n.1468-8T>G
NM_001351059.1:c.570-8T>G	NP_001337988.1:n.570-8T>G
XM_024448320.1:c.1549T>G	XP_024304088.1:p.Cys517Gly
XM_024448321.1:c.1549T>G	XP_024304089.1:p.Cys517Gly
XM_024448322.1:c.1549T>G	XP_024304090.1:p.Cys517Gly
XM_024448323.1:c.1549T>G	XP_024304091.1:p.Cys517Gly
XM_024448324.1:c.1549T>G	XP_024304092.1:p.Cys517Gly
XR_001747721.2:n.1588-8T>G
XR_001747722.1:n.1601-8T>G
XR_001747723.2:n.1601-8T>G
XR_002957115.1:n.1671T>G
NM_006019.4:c.1464-8T>G MANE Select	NP_006010.2:n.1464-8T>G
NM_001351059.2:c.570-8T>G	NP_001337988.1:n.570-8T>G
NM_006053.4:c.816-8T>G	NP_006044.1:n.816-8T>G