Canonical Allele Identifier: CA381582238
Gene: TCIRG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68047486G>T , CM000673.2:g.68047486G>T GRCh38
NC_000011.9:g.67814953G>T , CM000673.1:g.67814953G>T GRCh37
NC_000011.8:g.67571529G>T NCBI36
NG_007878.1:g.13471G>T , LRG_115:g.13471G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698254.1:c.748G>T ENSP00000513629.1:p.Val250Leu
ENST00000698255.1:c.1168G>T ENSP00000513630.1:p.Val390Leu
ENST00000698256.1:c.685G>T
ENST00000698257.1:n.637G>T
ENST00000698258.1:n.203G>T
ENST00000698259.1:n.43G>T
ENST00000265686.8:c.1219G>T MANE Select ENSP00000265686.3:p.Val407Leu
ENST00000265686.7:c.1219G>T ENSP00000265686.3:p.Val407Leu
ENST00000525516.1:n.13G>T
ENST00000525724.5:n.531G>T
ENST00000528981.5:c.371G>T
ENST00000529364.1:c.630G>T
ENST00000532635.5:c.571G>T ENSP00000434407.1:p.Val191Leu
ENST00000533005.5:n.255G>T
NM_006019.3:c.1219G>T NP_006010.2:p.Val407Leu
NM_006053.3:c.571G>T NP_006044.1:p.Val191Leu
XM_005273709.2:c.1219G>T XP_005273766.1:p.Val407Leu
XM_011544726.1:c.1219G>T XP_011543028.1:p.Val407Leu
XM_011544727.1:c.1219G>T XP_011543029.1:p.Val407Leu
XM_011544728.1:c.1219G>T XP_011543030.1:p.Val407Leu
XM_011544729.1:c.1235G>T XP_011543031.1:p.Cys412Phe
XR_949754.1:n.1223G>T
NM_001351059.1:c.325G>T NP_001337988.1:p.Val109Leu
XM_024448320.1:c.1235G>T XP_024304088.1:p.Cys412Phe
XM_024448321.1:c.1235G>T XP_024304089.1:p.Cys412Phe
XM_024448322.1:c.1235G>T XP_024304090.1:p.Cys412Phe
XM_024448323.1:c.1235G>T XP_024304091.1:p.Cys412Phe
XM_024448324.1:c.1235G>T XP_024304092.1:p.Cys412Phe
XR_001747721.2:n.1343G>T
XR_001747722.1:n.1356G>T
XR_001747723.2:n.1356G>T
XR_002957115.1:n.1357G>T
NM_006019.4:c.1219G>T MANE Select NP_006010.2:p.Val407Leu
NM_001351059.2:c.325G>T NP_001337988.1:p.Val109Leu
NM_006053.4:c.571G>T NP_006044.1:p.Val191Leu