Canonical Allele Identifier: CA363590763

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847108T>G , CM000668.2:g.32847108T>G GRCh38
NC_000006.11:g.32814885T>G , CM000668.1:g.32814885T>G GRCh37
NC_000006.10:g.32922863T>G NCBI36
NG_011759.1:g.11864A>C
NG_028165.1:g.2828A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1152A>C (TAP1) ENSP00000513708.1:n.*1152A>C
ENST00000698421.1:c.*894A>C (TAP1) ENSP00000513709.1:n.*894A>C
ENST00000698422.1:c.1811A>C (TAP1) ENSP00000513710.1:p.Asp604Ala
ENST00000698423.1:c.2000A>C (TAP1) ENSP00000513711.1:p.Asp667Ala
ENST00000698424.1:c.1871A>C (TAP1) ENSP00000513712.1:p.Asp624Ala
ENST00000354258.5:c.2000A>C (TAP1) MANE Select ENSP00000346206.5:p.Asp667Ala
ENST00000643049.2:c.545A>C (TAP1) ENSP00000494148.2:p.Asp182Ala
ENST00000643923.1:n.1436A>C (TAP1)
ENST00000645078.1:n.1595A>C (TAP1)
ENST00000354258.4:c.2180A>C (TAP1) ENSP00000346206.4:p.Asp727Ala
ENST00000395330.5:c.-10+2834T>G (PSMB9) ENSP00000378739.1:n.-10+2834T>G
ENST00000414474.5:c.-10+2238T>G (PSMB9) ENSP00000394363.1:n.-10+2238T>G
ENST00000486332.1:n.1925A>C (TAP1)
ENST00000487296.1:n.880A>C (TAP1)
NM_000593.5:c.2180A>C (TAP1) NP_000584.2:p.Asp727Ala
NM_001292022.1:c.1397A>C (TAP1) NP_001278951.1:p.Asp466Ala
NM_001292022.2:c.1397A>C (TAP1) NP_001278951.1:p.Asp466Ala
NM_000593.6:c.2000A>C (TAP1) MANE Select NP_000584.3:p.Asp667Ala