Canonical Allele Identifier: CA363592946

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32850991G>T , CM000668.2:g.32850991G>T GRCh38
NC_000006.11:g.32818768G>T , CM000668.1:g.32818768G>T GRCh37
NC_000006.10:g.32926746G>T NCBI36
NG_011759.1:g.7981C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*155C>A (TAP1) ENSP00000513708.1:n.*155C>A
ENST00000698421.1:c.845-474C>A (TAP1) ENSP00000513709.1:n.845-474C>A
ENST00000698422.1:c.1003C>A (TAP1) ENSP00000513710.1:p.Leu335Met
ENST00000698423.1:c.1003C>A (TAP1) ENSP00000513711.1:p.Leu335Met
ENST00000698424.1:c.1003C>A (TAP1) ENSP00000513712.1:p.Leu335Met
ENST00000354258.5:c.1003C>A (TAP1) MANE Select ENSP00000346206.5:p.Leu335Met
ENST00000643049.2:c.141+2505C>A (TAP1) ENSP00000494148.2:n.141+2505C>A
ENST00000643923.1:n.439C>A (TAP1)
ENST00000645078.1:n.598C>A (TAP1)
ENST00000354258.4:c.1183C>A (TAP1) ENSP00000346206.4:p.Leu395Met
ENST00000395330.5:c.-9-5147G>T (PSMB9) ENSP00000378739.1:n.-9-5147G>T
ENST00000414474.5:c.-9-5147G>T (PSMB9) ENSP00000394363.1:n.-9-5147G>T
NM_000593.5:c.1183C>A (TAP1) NP_000584.2:p.Leu395Met
NM_001292022.1:c.400C>A (TAP1) NP_001278951.1:p.Leu134Met
NM_001292022.2:c.400C>A (TAP1) NP_001278951.1:p.Leu134Met
NM_000593.6:c.1003C>A (TAP1) MANE Select NP_000584.3:p.Leu335Met