Canonical Allele Identifier: CA6147155

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 305807
• ClinVar RCV Id: RCV000280819 ; RCV001859824
• dbSNP Id: rs776489478
• ExAC: 11:67815425 T / A
• gnomAD v2: 11-67815425-T-A
• gnomAD v4: 11-68047958-T-A
• MyVariant Identifiers: chr11:g.67815425T>A (hg19) ; chr11:g.68047958T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047958T>A , CM000673.2:g.68047958T>A	GRCh38
NC_000011.9:g.67815425T>A , CM000673.1:g.67815425T>A	GRCh37
NC_000011.8:g.67572001T>A	NCBI36
NG_007878.1:g.13943T>A , LRG_115:g.13943T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.165T>A
ENST00000698254.1:c.1069T>A	ENSP00000513629.1:p.Phe357Ile
ENST00000698255.1:c.1489T>A	ENSP00000513630.1:p.Phe497Ile
ENST00000698256.1:c.1006T>A
ENST00000698257.1:n.958T>A
ENST00000698258.1:n.675T>A
ENST00000698259.1:n.441T>A
ENST00000265686.8:c.1540T>A MANE Select	ENSP00000265686.3:p.Phe514Ile
ENST00000265686.7:c.1540T>A	ENSP00000265686.3:p.Phe514Ile
ENST00000525516.1:n.334T>A
ENST00000525724.5:n.852T>A
ENST00000528981.5:c.692T>A
ENST00000532635.5:c.892T>A	ENSP00000434407.1:p.Phe298Ile
ENST00000533005.5:n.653T>A
NM_006019.3:c.1540T>A	NP_006010.2:p.Phe514Ile
NM_006053.3:c.892T>A	NP_006044.1:p.Phe298Ile
XM_005273709.2:c.1540T>A	XP_005273766.1:p.Phe514Ile
XM_011544726.1:c.1540T>A	XP_011543028.1:p.Phe514Ile
XM_011544727.1:c.1540T>A	XP_011543029.1:p.Phe514Ile
XM_011544728.1:c.1540T>A	XP_011543030.1:p.Phe514Ile
XR_949754.1:n.1544T>A
NM_001351059.1:c.646T>A	NP_001337988.1:p.Phe216Ile
XM_024448320.1:c.1633T>A	XP_024304088.1:p.Phe545Ile
XM_024448321.1:c.1633T>A	XP_024304089.1:p.Phe545Ile
XM_024448322.1:c.1633T>A	XP_024304090.1:p.Phe545Ile
XM_024448323.1:c.1633T>A	XP_024304091.1:p.Phe545Ile
XM_024448324.1:c.1633T>A	XP_024304092.1:p.Phe545Ile
XR_001747721.2:n.1664T>A
XR_001747722.1:n.1677T>A
XR_001747723.2:n.1677T>A
XR_002957115.1:n.1755T>A
NM_006019.4:c.1540T>A MANE Select	NP_006010.2:p.Phe514Ile
NM_001351059.2:c.646T>A	NP_001337988.1:p.Phe216Ile
NM_006053.4:c.892T>A	NP_006044.1:p.Phe298Ile