Canonical Allele Identifier: CA363592870

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32850954T>A , CM000668.2:g.32850954T>A GRCh38
NC_000006.11:g.32818731T>A , CM000668.1:g.32818731T>A GRCh37
NC_000006.10:g.32926709T>A NCBI36
NG_011759.1:g.8018A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*192A>T (TAP1) ENSP00000513708.1:n.*192A>T
ENST00000698421.1:c.845-437A>T (TAP1) ENSP00000513709.1:n.845-437A>T
ENST00000698422.1:c.1040A>T (TAP1) ENSP00000513710.1:p.Lys347Ile
ENST00000698423.1:c.1040A>T (TAP1) ENSP00000513711.1:p.Lys347Ile
ENST00000698424.1:c.1040A>T (TAP1) ENSP00000513712.1:p.Lys347Ile
ENST00000354258.5:c.1040A>T (TAP1) MANE Select ENSP00000346206.5:p.Lys347Ile
ENST00000643049.2:c.141+2542A>T (TAP1) ENSP00000494148.2:n.141+2542A>T
ENST00000643923.1:n.476A>T (TAP1)
ENST00000645078.1:n.635A>T (TAP1)
ENST00000354258.4:c.1220A>T (TAP1) ENSP00000346206.4:p.Lys407Ile
ENST00000395330.5:c.-9-5184T>A (PSMB9) ENSP00000378739.1:n.-9-5184T>A
ENST00000414474.5:c.-9-5184T>A (PSMB9) ENSP00000394363.1:n.-9-5184T>A
NM_000593.5:c.1220A>T (TAP1) NP_000584.2:p.Lys407Ile
NM_001292022.1:c.437A>T (TAP1) NP_001278951.1:p.Lys146Ile
NM_001292022.2:c.437A>T (TAP1) NP_001278951.1:p.Lys146Ile
NM_000593.6:c.1040A>T (TAP1) MANE Select NP_000584.3:p.Lys347Ile