Canonical Allele Identifier: CA363590691

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847075T>G , CM000668.2:g.32847075T>G GRCh38
NC_000006.11:g.32814852T>G , CM000668.1:g.32814852T>G GRCh37
NC_000006.10:g.32922830T>G NCBI36
NG_011759.1:g.11897A>C
NG_028165.1:g.2861A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1185A>C (TAP1) ENSP00000513708.1:n.*1185A>C
ENST00000698421.1:c.*927A>C (TAP1) ENSP00000513709.1:n.*927A>C
ENST00000698422.1:c.1844A>C (TAP1) ENSP00000513710.1:p.Gln615Pro
ENST00000698423.1:c.2033A>C (TAP1) ENSP00000513711.1:p.Gln678Pro
ENST00000698424.1:c.1904A>C (TAP1) ENSP00000513712.1:p.Gln635Pro
ENST00000354258.5:c.2033A>C (TAP1) MANE Select ENSP00000346206.5:p.Gln678Pro
ENST00000643049.2:c.578A>C (TAP1) ENSP00000494148.2:p.Gln193Pro
ENST00000643923.1:n.1469A>C (TAP1)
ENST00000645078.1:n.1628A>C (TAP1)
ENST00000354258.4:c.2213A>C (TAP1) ENSP00000346206.4:p.Gln738Pro
ENST00000395330.5:c.-10+2801T>G (PSMB9) ENSP00000378739.1:n.-10+2801T>G
ENST00000414474.5:c.-10+2205T>G (PSMB9) ENSP00000394363.1:n.-10+2205T>G
ENST00000486332.1:n.1958A>C (TAP1)
ENST00000487296.1:n.913A>C (TAP1)
NM_000593.5:c.2213A>C (TAP1) NP_000584.2:p.Gln738Pro
NM_001292022.1:c.1430A>C (TAP1) NP_001278951.1:p.Gln477Pro
NM_001292022.2:c.1430A>C (TAP1) NP_001278951.1:p.Gln477Pro
NM_000593.6:c.2033A>C (TAP1) MANE Select NP_000584.3:p.Gln678Pro