Canonical Allele Identifier: CA381584661

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 2106847
• ClinVar RCV Id: RCV003026673
• gnomAD v4: 11-68047964-A-T
• MyVariant Identifiers: chr11:g.67815431A>T (hg19) ; chr11:g.68047964A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047964A>T , CM000673.2:g.68047964A>T	GRCh38
NC_000011.9:g.67815431A>T , CM000673.1:g.67815431A>T	GRCh37
NC_000011.8:g.67572007A>T	NCBI36
NG_007878.1:g.13949A>T , LRG_115:g.13949A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.171A>T
ENST00000698254.1:c.1075A>T	ENSP00000513629.1:p.Ile359Phe
ENST00000698255.1:c.1495A>T	ENSP00000513630.1:p.Ile499Phe
ENST00000698256.1:c.1012A>T
ENST00000698257.1:n.964A>T
ENST00000698258.1:n.681A>T
ENST00000698259.1:n.447A>T
ENST00000265686.8:c.1546A>T MANE Select	ENSP00000265686.3:p.Ile516Phe
ENST00000265686.7:c.1546A>T	ENSP00000265686.3:p.Ile516Phe
ENST00000525516.1:n.340A>T
ENST00000525724.5:n.858A>T
ENST00000528981.5:c.698A>T
ENST00000532635.5:c.898A>T	ENSP00000434407.1:p.Ile300Phe
ENST00000533005.5:n.659A>T
NM_006019.3:c.1546A>T	NP_006010.2:p.Ile516Phe
NM_006053.3:c.898A>T	NP_006044.1:p.Ile300Phe
XM_005273709.2:c.1546A>T	XP_005273766.1:p.Ile516Phe
XM_011544726.1:c.1546A>T	XP_011543028.1:p.Ile516Phe
XM_011544727.1:c.1546A>T	XP_011543029.1:p.Ile516Phe
XM_011544728.1:c.1546A>T	XP_011543030.1:p.Ile516Phe
XR_949754.1:n.1550A>T
NM_001351059.1:c.652A>T	NP_001337988.1:p.Ile218Phe
XM_024448320.1:c.1639A>T	XP_024304088.1:p.Ile547Phe
XM_024448321.1:c.1639A>T	XP_024304089.1:p.Ile547Phe
XM_024448322.1:c.1639A>T	XP_024304090.1:p.Ile547Phe
XM_024448323.1:c.1639A>T	XP_024304091.1:p.Ile547Phe
XM_024448324.1:c.1639A>T	XP_024304092.1:p.Ile547Phe
XR_001747721.2:n.1670A>T
XR_001747722.1:n.1683A>T
XR_001747723.2:n.1683A>T
XR_002957115.1:n.1761A>T
NM_006019.4:c.1546A>T MANE Select	NP_006010.2:p.Ile516Phe
NM_001351059.2:c.652A>T	NP_001337988.1:p.Ile218Phe
NM_006053.4:c.898A>T	NP_006044.1:p.Ile300Phe