Canonical Allele Identifier: CA393789627

Linked Data

ClinVar Variation Id: 3177385
ClinVar RCV Id: RCV004467227
dbSNP Id: rs747954087

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89624704C>G , CM000677.2:g.89624704C>G GRCh38
NC_000015.9:g.90167935C>G , CM000677.1:g.90167935C>G GRCh37
NC_000015.8:g.87968939C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000268138.12:c.4394C>G (TICRR) MANE Select ENSP00000268138.7:p.Thr1465Ser
ENST00000268138.11:c.4394C>G (TICRR) ENSP00000268138.7:p.Thr1465Ser
ENST00000558928.1:n.180+3897G>C (KIF7)
ENST00000560985.5:c.4391C>G (TICRR) ENSP00000453306.1:p.Thr1464Ser
NM_001308025.1:c.4391C>G (TICRR) NP_001294954.1:p.Thr1464Ser
NM_152259.3:c.4394C>G (TICRR) NP_689472.3:p.Thr1465Ser
XM_011521534.1:c.3973+3897G>C (KIF7) XP_011519836.1:n.3973+3897G>C
XM_011521535.1:c.3973+3897G>C (KIF7) XP_011519837.1:n.3973+3897G>C
XM_011521536.1:c.3973+3897G>C (KIF7) XP_011519838.1:n.3973+3897G>C
XM_011522162.1:c.4394C>G (TICRR) XP_011520464.1:p.Thr1465Ser
NM_152259.4:c.4394C>G (TICRR) MANE Select NP_689472.3:p.Thr1465Ser