Canonical Allele Identifier: CA381584619
Gene: TCIRG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3175290
ClinVar RCV Id: RCV004466619

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68047950C>T , CM000673.2:g.68047950C>T GRCh38
NC_000011.9:g.67815417C>T , CM000673.1:g.67815417C>T GRCh37
NC_000011.8:g.67571993C>T NCBI36
NG_007878.1:g.13935C>T , LRG_115:g.13935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000530449.2:n.157C>T
ENST00000698254.1:c.1061C>T ENSP00000513629.1:p.Pro354Leu
ENST00000698255.1:c.1481C>T ENSP00000513630.1:p.Pro494Leu
ENST00000698256.1:c.998C>T
ENST00000698257.1:n.950C>T
ENST00000698258.1:n.667C>T
ENST00000698259.1:n.433C>T
ENST00000265686.8:c.1532C>T MANE Select ENSP00000265686.3:p.Pro511Leu
ENST00000265686.7:c.1532C>T ENSP00000265686.3:p.Pro511Leu
ENST00000525516.1:n.326C>T
ENST00000525724.5:n.844C>T
ENST00000528981.5:c.684C>T
ENST00000532635.5:c.884C>T ENSP00000434407.1:p.Pro295Leu
ENST00000533005.5:n.645C>T
NM_006019.3:c.1532C>T NP_006010.2:p.Pro511Leu
NM_006053.3:c.884C>T NP_006044.1:p.Pro295Leu
XM_005273709.2:c.1532C>T XP_005273766.1:p.Pro511Leu
XM_011544726.1:c.1532C>T XP_011543028.1:p.Pro511Leu
XM_011544727.1:c.1532C>T XP_011543029.1:p.Pro511Leu
XM_011544728.1:c.1532C>T XP_011543030.1:p.Pro511Leu
XR_949754.1:n.1536C>T
NM_001351059.1:c.638C>T NP_001337988.1:p.Pro213Leu
XM_024448320.1:c.1625C>T XP_024304088.1:p.Pro542Leu
XM_024448321.1:c.1625C>T XP_024304089.1:p.Pro542Leu
XM_024448322.1:c.1625C>T XP_024304090.1:p.Pro542Leu
XM_024448323.1:c.1625C>T XP_024304091.1:p.Pro542Leu
XM_024448324.1:c.1625C>T XP_024304092.1:p.Pro542Leu
XR_001747721.2:n.1656C>T
XR_001747722.1:n.1669C>T
XR_001747723.2:n.1669C>T
XR_002957115.1:n.1747C>T
NM_006019.4:c.1532C>T MANE Select NP_006010.2:p.Pro511Leu
NM_001351059.2:c.638C>T NP_001337988.1:p.Pro213Leu
NM_006053.4:c.884C>T NP_006044.1:p.Pro295Leu