Canonical Allele Identifier: CA363592957

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32850999A>C , CM000668.2:g.32850999A>C GRCh38
NC_000006.11:g.32818776A>C , CM000668.1:g.32818776A>C GRCh37
NC_000006.10:g.32926754A>C NCBI36
NG_011759.1:g.7973T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*147T>G (TAP1) ENSP00000513708.1:n.*147T>G
ENST00000698421.1:c.845-482T>G (TAP1) ENSP00000513709.1:n.845-482T>G
ENST00000698422.1:c.995T>G (TAP1) ENSP00000513710.1:p.Leu332Arg
ENST00000698423.1:c.995T>G (TAP1) ENSP00000513711.1:p.Leu332Arg
ENST00000698424.1:c.995T>G (TAP1) ENSP00000513712.1:p.Leu332Arg
ENST00000354258.5:c.995T>G (TAP1) MANE Select ENSP00000346206.5:p.Leu332Arg
ENST00000643049.2:c.141+2497T>G (TAP1) ENSP00000494148.2:n.141+2497T>G
ENST00000643923.1:n.431T>G (TAP1)
ENST00000645078.1:n.590T>G (TAP1)
ENST00000354258.4:c.1175T>G (TAP1) ENSP00000346206.4:p.Leu392Arg
ENST00000395330.5:c.-9-5139A>C (PSMB9) ENSP00000378739.1:n.-9-5139A>C
ENST00000414474.5:c.-9-5139A>C (PSMB9) ENSP00000394363.1:n.-9-5139A>C
NM_000593.5:c.1175T>G (TAP1) NP_000584.2:p.Leu392Arg
NM_001292022.1:c.392T>G (TAP1) NP_001278951.1:p.Leu131Arg
NM_001292022.2:c.392T>G (TAP1) NP_001278951.1:p.Leu131Arg
NM_000593.6:c.995T>G (TAP1) MANE Select NP_000584.3:p.Leu332Arg