Canonical Allele Identifier: CA393791286

Linked Data

ClinVar Variation Id: 2555927
ClinVar RCV Id: RCV004323000

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89625117C>G , CM000677.2:g.89625117C>G GRCh38
NC_000015.9:g.90168348C>G , CM000677.1:g.90168348C>G GRCh37
NC_000015.8:g.87969352C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000268138.12:c.4807C>G (TICRR) MANE Select ENSP00000268138.7:p.Pro1603Ala
ENST00000268138.11:c.4807C>G (TICRR) ENSP00000268138.7:p.Pro1603Ala
ENST00000558928.1:n.180+3484G>C (KIF7)
ENST00000560985.5:c.4804C>G (TICRR) ENSP00000453306.1:p.Pro1602Ala
NM_001308025.1:c.4804C>G (TICRR) NP_001294954.1:p.Pro1602Ala
NM_152259.3:c.4807C>G (TICRR) NP_689472.3:p.Pro1603Ala
XM_011521534.1:c.3973+3484G>C (KIF7) XP_011519836.1:n.3973+3484G>C
XM_011521535.1:c.3973+3484G>C (KIF7) XP_011519837.1:n.3973+3484G>C
XM_011521536.1:c.3973+3484G>C (KIF7) XP_011519838.1:n.3973+3484G>C
XM_011522162.1:c.4807C>G (TICRR) XP_011520464.1:p.Pro1603Ala
NM_152259.4:c.4807C>G (TICRR) MANE Select NP_689472.3:p.Pro1603Ala