Canonical Allele Identifier: CA6147078

Gene: TCIRG1

Linked Data

• dbSNP Id: rs751411680
• ExAC: 11:67815129 T / C
• gnomAD v2: 11-67815129-T-C
• gnomAD v4: 11-68047662-T-C
• MyVariant Identifiers: chr11:g.67815129T>C (hg19) ; chr11:g.68047662T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047662T>C , CM000673.2:g.68047662T>C	GRCh38
NC_000011.9:g.67815129T>C , CM000673.1:g.67815129T>C	GRCh37
NC_000011.8:g.67571705T>C	NCBI36
NG_007878.1:g.13647T>C , LRG_115:g.13647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698254.1:c.850T>C	ENSP00000513629.1:p.Phe284Leu
ENST00000698255.1:c.1270T>C	ENSP00000513630.1:p.Phe424Leu
ENST00000698256.1:c.787T>C
ENST00000698257.1:n.739T>C
ENST00000698258.1:n.379T>C
ENST00000698259.1:n.145T>C
ENST00000265686.8:c.1321T>C MANE Select	ENSP00000265686.3:p.Phe441Leu
ENST00000265686.7:c.1321T>C	ENSP00000265686.3:p.Phe441Leu
ENST00000525516.1:n.115T>C
ENST00000525724.5:n.633T>C
ENST00000528981.5:c.473T>C
ENST00000529364.1:c.732T>C
ENST00000532635.5:c.673T>C	ENSP00000434407.1:p.Phe225Leu
ENST00000533005.5:n.357T>C
NM_006019.3:c.1321T>C	NP_006010.2:p.Phe441Leu
NM_006053.3:c.673T>C	NP_006044.1:p.Phe225Leu
XM_005273709.2:c.1321T>C	XP_005273766.1:p.Phe441Leu
XM_011544726.1:c.1321T>C	XP_011543028.1:p.Phe441Leu
XM_011544727.1:c.1321T>C	XP_011543029.1:p.Phe441Leu
XM_011544728.1:c.1321T>C	XP_011543030.1:p.Phe441Leu
XM_011544729.1:c.1337T>C	XP_011543031.1:p.Leu446Pro
XR_949754.1:n.1325T>C
NM_001351059.1:c.427T>C	NP_001337988.1:p.Phe143Leu
XM_024448320.1:c.1337T>C	XP_024304088.1:p.Leu446Pro
XM_024448321.1:c.1337T>C	XP_024304089.1:p.Leu446Pro
XM_024448322.1:c.1337T>C	XP_024304090.1:p.Leu446Pro
XM_024448323.1:c.1337T>C	XP_024304091.1:p.Leu446Pro
XM_024448324.1:c.1337T>C	XP_024304092.1:p.Leu446Pro
XR_001747721.2:n.1445T>C
XR_001747722.1:n.1458T>C
XR_001747723.2:n.1458T>C
XR_002957115.1:n.1459T>C
NM_006019.4:c.1321T>C MANE Select	NP_006010.2:p.Phe441Leu
NM_001351059.2:c.427T>C	NP_001337988.1:p.Phe143Leu
NM_006053.4:c.673T>C	NP_006044.1:p.Phe225Leu