Canonical Allele Identifier: CA363590670

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847067C>G , CM000668.2:g.32847067C>G GRCh38
NC_000006.11:g.32814844C>G , CM000668.1:g.32814844C>G GRCh37
NC_000006.10:g.32922822C>G NCBI36
NG_011759.1:g.11905G>C
NG_028165.1:g.2869G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1192+1G>C (TAP1) ENSP00000513708.1:n.*1192+1G>C
ENST00000698421.1:c.*934+1G>C (TAP1) ENSP00000513709.1:n.*934+1G>C
ENST00000698422.1:c.1851+1G>C (TAP1) ENSP00000513710.1:n.1851+1G>C
ENST00000698423.1:c.2040+1G>C (TAP1) ENSP00000513711.1:n.2040+1G>C
ENST00000698424.1:c.1911+1G>C (TAP1) ENSP00000513712.1:n.1911+1G>C
ENST00000354258.5:c.2040+1G>C (TAP1) MANE Select ENSP00000346206.5:n.2040+1G>C
ENST00000643049.2:c.585+1G>C (TAP1) ENSP00000494148.2:n.585+1G>C
ENST00000643923.1:n.1476+1G>C (TAP1)
ENST00000645078.1:n.1635+1G>C (TAP1)
ENST00000354258.4:c.2220+1G>C (TAP1) ENSP00000346206.4:n.2220+1G>C
ENST00000395330.5:c.-10+2793C>G (PSMB9) ENSP00000378739.1:n.-10+2793C>G
ENST00000414474.5:c.-10+2197C>G (PSMB9) ENSP00000394363.1:n.-10+2197C>G
ENST00000486332.1:n.1965+1G>C (TAP1)
ENST00000487296.1:n.920+1G>C (TAP1)
NM_000593.5:c.2220+1G>C (TAP1) NP_000584.2:n.2220+1G>C
NM_001292022.1:c.1437+1G>C (TAP1) NP_001278951.1:n.1437+1G>C
NM_001292022.2:c.1437+1G>C (TAP1) NP_001278951.1:n.1437+1G>C
NM_000593.6:c.2040+1G>C (TAP1) MANE Select NP_000584.3:n.2040+1G>C