Canonical Allele Identifier: CA6147079

Gene: TCIRG1

Linked Data

• dbSNP Id: rs757208775
• ExAC: 11:67815136 G / T
• gnomAD v2: 11-67815136-G-T
• gnomAD v4: 11-68047669-G-T
• MyVariant Identifiers: chr11:g.67815136G>T (hg19) ; chr11:g.68047669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047669G>T , CM000673.2:g.68047669G>T	GRCh38
NC_000011.9:g.67815136G>T , CM000673.1:g.67815136G>T	GRCh37
NC_000011.8:g.67571712G>T	NCBI36
NG_007878.1:g.13654G>T , LRG_115:g.13654G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698254.1:c.857G>T	ENSP00000513629.1:p.Gly286Val
ENST00000698255.1:c.1277G>T	ENSP00000513630.1:p.Gly426Val
ENST00000698256.1:c.794G>T
ENST00000698257.1:n.746G>T
ENST00000698258.1:n.386G>T
ENST00000698259.1:n.152G>T
ENST00000265686.8:c.1328G>T MANE Select	ENSP00000265686.3:p.Gly443Val
ENST00000265686.7:c.1328G>T	ENSP00000265686.3:p.Gly443Val
ENST00000525516.1:n.122G>T
ENST00000525724.5:n.640G>T
ENST00000528981.5:c.480G>T
ENST00000529364.1:c.739G>T
ENST00000532635.5:c.680G>T	ENSP00000434407.1:p.Gly227Val
ENST00000533005.5:n.364G>T
NM_006019.3:c.1328G>T	NP_006010.2:p.Gly443Val
NM_006053.3:c.680G>T	NP_006044.1:p.Gly227Val
XM_005273709.2:c.1328G>T	XP_005273766.1:p.Gly443Val
XM_011544726.1:c.1328G>T	XP_011543028.1:p.Gly443Val
XM_011544727.1:c.1328G>T	XP_011543029.1:p.Gly443Val
XM_011544728.1:c.1328G>T	XP_011543030.1:p.Gly443Val
XM_011544729.1:c.1344G>T	XP_011543031.1:p.Gly448=
XR_949754.1:n.1332G>T
NM_001351059.1:c.434G>T	NP_001337988.1:p.Gly145Val
XM_024448320.1:c.1344G>T	XP_024304088.1:p.Gly448=
XM_024448321.1:c.1344G>T	XP_024304089.1:p.Gly448=
XM_024448322.1:c.1344G>T	XP_024304090.1:p.Gly448=
XM_024448323.1:c.1344G>T	XP_024304091.1:p.Gly448=
XM_024448324.1:c.1344G>T	XP_024304092.1:p.Gly448=
XR_001747721.2:n.1452G>T
XR_001747722.1:n.1465G>T
XR_001747723.2:n.1465G>T
XR_002957115.1:n.1466G>T
NM_006019.4:c.1328G>T MANE Select	NP_006010.2:p.Gly443Val
NM_001351059.2:c.434G>T	NP_001337988.1:p.Gly145Val
NM_006053.4:c.680G>T	NP_006044.1:p.Gly227Val