Canonical Allele Identifier: CA224210000
Community Standard Title: NM_006019.4(TCIRG1):c.1887+130C>T
Gene: TCIRG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68049424C>T , CM000673.2:g.68049424C>T GRCh38
NC_000011.9:g.67816891C>T , CM000673.1:g.67816891C>T GRCh37
NC_000011.8:g.67573467C>T NCBI36
NG_007878.1:g.15409C>T , LRG_115:g.15409C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006019.4:c.1887+130C>T MANE Select NP_006010.2:n.1887+130C>T
ENST00000265686.8:c.1887+130C>T MANE Select ENSP00000265686.3:n.1887+130C>T
NM_001351059.1:c.993+130C>T NP_001337988.1:n.993+130C>T
NM_001351059.2:c.993+130C>T NP_001337988.1:n.993+130C>T
NM_006019.3:c.1887+130C>T NP_006010.2:n.1887+130C>T
NM_006053.3:c.1239+130C>T NP_006044.1:n.1239+130C>T
NM_006053.4:c.1239+130C>T NP_006044.1:n.1239+130C>T
ENST00000265686.7:c.1887+130C>T ENSP00000265686.3:n.1887+130C>T
ENST00000524870.1:n.277C>T
ENST00000525724.5:n.1199+130C>T
ENST00000530449.2:n.642C>T
ENST00000532635.5:c.1239+130C>T ENSP00000434407.1:n.1239+130C>T
ENST00000533005.5:n.1000+130C>T
ENST00000698254.1:c.1416+130C>T ENSP00000513629.1:n.1416+130C>T
ENST00000698255.1:c.1836+130C>T ENSP00000513630.1:n.1836+130C>T
ENST00000698256.1:c.1353+130C>T
ENST00000698257.1:n.1305+130C>T
ENST00000698258.1:n.1022+130C>T
ENST00000698259.1:n.918C>T
XM_005273709.2:c.1887+130C>T XP_005273766.1:n.1887+130C>T
XM_011544726.1:c.1887+130C>T XP_011543028.1:n.1887+130C>T
XM_011544727.1:c.1887+130C>T XP_011543029.1:n.1887+130C>T
XM_011544728.1:c.1887+130C>T XP_011543030.1:n.1887+130C>T
XM_024448320.1:c.1980+130C>T XP_024304088.1:n.1980+130C>T
XM_024448321.1:c.1980+130C>T XP_024304089.1:n.1980+130C>T
XM_024448322.1:c.1980+130C>T XP_024304090.1:n.1980+130C>T
XM_024448323.1:c.1980+130C>T XP_024304091.1:n.1980+130C>T
XM_024448324.1:c.1980+130C>T XP_024304092.1:n.1980+130C>T
XR_001747721.2:n.2011+130C>T
XR_001747722.1:n.2024+130C>T
XR_001747723.2:n.2024+130C>T
XR_002957115.1:n.2232C>T
XR_949754.1:n.2021C>T