Canonical Allele Identifier: CA381584689

Gene: TCIRG1

Linked Data

• ClinVar Variation Id: 1308761
• ClinVar RCV Id: RCV001754649
• dbSNP Id: rs2134456332
• gnomAD v4: 11-68047971-C-T
• MyVariant Identifiers: chr11:g.67815438C>T (hg19) ; chr11:g.68047971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68047971C>T , CM000673.2:g.68047971C>T	GRCh38
NC_000011.9:g.67815438C>T , CM000673.1:g.67815438C>T	GRCh37
NC_000011.8:g.67572014C>T	NCBI36
NG_007878.1:g.13956C>T , LRG_115:g.13956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530449.2:n.178C>T
ENST00000698254.1:c.1082C>T	ENSP00000513629.1:p.Pro361Leu
ENST00000698255.1:c.1502C>T	ENSP00000513630.1:p.Pro501Leu
ENST00000698256.1:c.1019C>T
ENST00000698257.1:n.971C>T
ENST00000698258.1:n.688C>T
ENST00000698259.1:n.454C>T
ENST00000265686.8:c.1553C>T MANE Select	ENSP00000265686.3:p.Pro518Leu
ENST00000265686.7:c.1553C>T	ENSP00000265686.3:p.Pro518Leu
ENST00000525516.1:n.347C>T
ENST00000525724.5:n.865C>T
ENST00000528981.5:c.705C>T
ENST00000532635.5:c.905C>T	ENSP00000434407.1:p.Pro302Leu
ENST00000533005.5:n.666C>T
NM_006019.3:c.1553C>T	NP_006010.2:p.Pro518Leu
NM_006053.3:c.905C>T	NP_006044.1:p.Pro302Leu
XM_005273709.2:c.1553C>T	XP_005273766.1:p.Pro518Leu
XM_011544726.1:c.1553C>T	XP_011543028.1:p.Pro518Leu
XM_011544727.1:c.1553C>T	XP_011543029.1:p.Pro518Leu
XM_011544728.1:c.1553C>T	XP_011543030.1:p.Pro518Leu
XR_949754.1:n.1557C>T
NM_001351059.1:c.659C>T	NP_001337988.1:p.Pro220Leu
XM_024448320.1:c.1646C>T	XP_024304088.1:p.Pro549Leu
XM_024448321.1:c.1646C>T	XP_024304089.1:p.Pro549Leu
XM_024448322.1:c.1646C>T	XP_024304090.1:p.Pro549Leu
XM_024448323.1:c.1646C>T	XP_024304091.1:p.Pro549Leu
XM_024448324.1:c.1646C>T	XP_024304092.1:p.Pro549Leu
XR_001747721.2:n.1677C>T
XR_001747722.1:n.1690C>T
XR_001747723.2:n.1690C>T
XR_002957115.1:n.1768C>T
NM_006019.4:c.1553C>T MANE Select	NP_006010.2:p.Pro518Leu
NM_001351059.2:c.659C>T	NP_001337988.1:p.Pro220Leu
NM_006053.4:c.905C>T	NP_006044.1:p.Pro302Leu