Canonical Allele Identifier: CA363590682

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847072A>C , CM000668.2:g.32847072A>C GRCh38
NC_000006.11:g.32814849A>C , CM000668.1:g.32814849A>C GRCh37
NC_000006.10:g.32922827A>C NCBI36
NG_011759.1:g.11900T>G
NG_028165.1:g.2864T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1188T>G (TAP1) ENSP00000513708.1:n.*1188T>G
ENST00000698421.1:c.*930T>G (TAP1) ENSP00000513709.1:n.*930T>G
ENST00000698422.1:c.1847T>G (TAP1) ENSP00000513710.1:p.Leu616Ter
ENST00000698423.1:c.2036T>G (TAP1) ENSP00000513711.1:p.Leu679Ter
ENST00000698424.1:c.1907T>G (TAP1) ENSP00000513712.1:p.Leu636Ter
ENST00000354258.5:c.2036T>G (TAP1) MANE Select ENSP00000346206.5:p.Leu679Ter
ENST00000643049.2:c.581T>G (TAP1) ENSP00000494148.2:p.Leu194Ter
ENST00000643923.1:n.1472T>G (TAP1)
ENST00000645078.1:n.1631T>G (TAP1)
ENST00000354258.4:c.2216T>G (TAP1) ENSP00000346206.4:p.Leu739Ter
ENST00000395330.5:c.-10+2798A>C (PSMB9) ENSP00000378739.1:n.-10+2798A>C
ENST00000414474.5:c.-10+2202A>C (PSMB9) ENSP00000394363.1:n.-10+2202A>C
ENST00000486332.1:n.1961T>G (TAP1)
ENST00000487296.1:n.916T>G (TAP1)
NM_000593.5:c.2216T>G (TAP1) NP_000584.2:p.Leu739Ter
NM_001292022.1:c.1433T>G (TAP1) NP_001278951.1:p.Leu478Ter
NM_001292022.2:c.1433T>G (TAP1) NP_001278951.1:p.Leu478Ter
NM_000593.6:c.2036T>G (TAP1) MANE Select NP_000584.3:p.Leu679Ter