Canonical Allele Identifier: CA363590745

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847100T>C , CM000668.2:g.32847100T>C GRCh38
NC_000006.11:g.32814877T>C , CM000668.1:g.32814877T>C GRCh37
NC_000006.10:g.32922855T>C NCBI36
NG_011759.1:g.11872A>G
NG_028165.1:g.2836A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1160A>G (TAP1) ENSP00000513708.1:n.*1160A>G
ENST00000698421.1:c.*902A>G (TAP1) ENSP00000513709.1:n.*902A>G
ENST00000698422.1:c.1819A>G (TAP1) ENSP00000513710.1:p.Thr607Ala
ENST00000698423.1:c.2008A>G (TAP1) ENSP00000513711.1:p.Thr670Ala
ENST00000698424.1:c.1879A>G (TAP1) ENSP00000513712.1:p.Thr627Ala
ENST00000354258.5:c.2008A>G (TAP1) MANE Select ENSP00000346206.5:p.Thr670Ala
ENST00000643049.2:c.553A>G (TAP1) ENSP00000494148.2:p.Thr185Ala
ENST00000643923.1:n.1444A>G (TAP1)
ENST00000645078.1:n.1603A>G (TAP1)
ENST00000354258.4:c.2188A>G (TAP1) ENSP00000346206.4:p.Thr730Ala
ENST00000395330.5:c.-10+2826T>C (PSMB9) ENSP00000378739.1:n.-10+2826T>C
ENST00000414474.5:c.-10+2230T>C (PSMB9) ENSP00000394363.1:n.-10+2230T>C
ENST00000486332.1:n.1933A>G (TAP1)
ENST00000487296.1:n.888A>G (TAP1)
NM_000593.5:c.2188A>G (TAP1) NP_000584.2:p.Thr730Ala
NM_001292022.1:c.1405A>G (TAP1) NP_001278951.1:p.Thr469Ala
NM_001292022.2:c.1405A>G (TAP1) NP_001278951.1:p.Thr469Ala
NM_000593.6:c.2008A>G (TAP1) MANE Select NP_000584.3:p.Thr670Ala