Canonical Allele Identifier: CA16041533

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 371557
• ClinVar RCV Id: RCV000410207
• dbSNP Id: rs1057517365
• gnomAD v4: 11-68048883-G-A
• MyVariant Identifiers: chr11:g.67816350G>A (hg19) ; chr11:g.68048883G>A (hg38)
• PubMed: PMID:25829125

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68048883G>A , CM000673.2:g.68048883G>A	GRCh38
NC_000011.9:g.67816350G>A , CM000673.1:g.67816350G>A	GRCh37
NC_000011.8:g.67572926G>A	NCBI36
NG_007878.1:g.14868G>A , LRG_115:g.14868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.184G>A
ENST00000698254.1:c.1088G>A	ENSP00000513629.1:p.Trp363Ter
ENST00000698255.1:c.1508G>A	ENSP00000513630.1:p.Trp503Ter
ENST00000698256.1:c.1025G>A
ENST00000698257.1:n.977G>A
ENST00000698258.1:n.694G>A
ENST00000698259.1:n.460G>A
ENST00000265686.8:c.1559G>A MANE Select	ENSP00000265686.3:p.Trp520Ter
ENST00000265686.7:c.1559G>A	ENSP00000265686.3:p.Trp520Ter
ENST00000525724.5:n.871G>A
ENST00000528981.5:c.711G>A
ENST00000532635.5:c.911G>A	ENSP00000434407.1:p.Trp304Ter
ENST00000533005.5:n.672G>A
NM_006019.3:c.1559G>A	NP_006010.2:p.Trp520Ter
NM_006053.3:c.911G>A	NP_006044.1:p.Trp304Ter
XM_005273709.2:c.1559G>A	XP_005273766.1:p.Trp520Ter
XM_011544726.1:c.1559G>A	XP_011543028.1:p.Trp520Ter
XM_011544727.1:c.1559G>A	XP_011543029.1:p.Trp520Ter
XM_011544728.1:c.1559G>A	XP_011543030.1:p.Trp520Ter
XR_949754.1:n.1563G>A
NM_001351059.1:c.665G>A	NP_001337988.1:p.Trp222Ter
XM_024448320.1:c.1652G>A	XP_024304088.1:p.Trp551Ter
XM_024448321.1:c.1652G>A	XP_024304089.1:p.Trp551Ter
XM_024448322.1:c.1652G>A	XP_024304090.1:p.Trp551Ter
XM_024448323.1:c.1652G>A	XP_024304091.1:p.Trp551Ter
XM_024448324.1:c.1652G>A	XP_024304092.1:p.Trp551Ter
XR_001747721.2:n.1683G>A
XR_001747722.1:n.1696G>A
XR_001747723.2:n.1696G>A
XR_002957115.1:n.1774G>A
NM_006019.4:c.1559G>A MANE Select	NP_006010.2:p.Trp520Ter
NM_001351059.2:c.665G>A	NP_001337988.1:p.Trp222Ter
NM_006053.4:c.911G>A	NP_006044.1:p.Trp304Ter