Canonical Allele Identifier: CA363590715

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847086A>C , CM000668.2:g.32847086A>C GRCh38
NC_000006.11:g.32814863A>C , CM000668.1:g.32814863A>C GRCh37
NC_000006.10:g.32922841A>C NCBI36
NG_011759.1:g.11886T>G
NG_028165.1:g.2850T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1174T>G (TAP1) ENSP00000513708.1:n.*1174T>G
ENST00000698421.1:c.*916T>G (TAP1) ENSP00000513709.1:n.*916T>G
ENST00000698422.1:c.1833T>G (TAP1) ENSP00000513710.1:p.Asp611Glu
ENST00000698423.1:c.2022T>G (TAP1) ENSP00000513711.1:p.Asp674Glu
ENST00000698424.1:c.1893T>G (TAP1) ENSP00000513712.1:p.Asp631Glu
ENST00000354258.5:c.2022T>G (TAP1) MANE Select ENSP00000346206.5:p.Asp674Glu
ENST00000643049.2:c.567T>G (TAP1) ENSP00000494148.2:p.Asp189Glu
ENST00000643923.1:n.1458T>G (TAP1)
ENST00000645078.1:n.1617T>G (TAP1)
ENST00000354258.4:c.2202T>G (TAP1) ENSP00000346206.4:p.Asp734Glu
ENST00000395330.5:c.-10+2812A>C (PSMB9) ENSP00000378739.1:n.-10+2812A>C
ENST00000414474.5:c.-10+2216A>C (PSMB9) ENSP00000394363.1:n.-10+2216A>C
ENST00000486332.1:n.1947T>G (TAP1)
ENST00000487296.1:n.902T>G (TAP1)
NM_000593.5:c.2202T>G (TAP1) NP_000584.2:p.Asp734Glu
NM_001292022.1:c.1419T>G (TAP1) NP_001278951.1:p.Asp473Glu
NM_001292022.2:c.1419T>G (TAP1) NP_001278951.1:p.Asp473Glu
NM_000593.6:c.2022T>G (TAP1) MANE Select NP_000584.3:p.Asp674Glu