Canonical Allele Identifier: CA363590699

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847079T>A , CM000668.2:g.32847079T>A GRCh38
NC_000006.11:g.32814856T>A , CM000668.1:g.32814856T>A GRCh37
NC_000006.10:g.32922834T>A NCBI36
NG_011759.1:g.11893A>T
NG_028165.1:g.2857A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1181A>T (TAP1) ENSP00000513708.1:n.*1181A>T
ENST00000698421.1:c.*923A>T (TAP1) ENSP00000513709.1:n.*923A>T
ENST00000698422.1:c.1840A>T (TAP1) ENSP00000513710.1:p.Ser614Cys
ENST00000698423.1:c.2029A>T (TAP1) ENSP00000513711.1:p.Ser677Cys
ENST00000698424.1:c.1900A>T (TAP1) ENSP00000513712.1:p.Ser634Cys
ENST00000354258.5:c.2029A>T (TAP1) MANE Select ENSP00000346206.5:p.Ser677Cys
ENST00000643049.2:c.574A>T (TAP1) ENSP00000494148.2:p.Ser192Cys
ENST00000643923.1:n.1465A>T (TAP1)
ENST00000645078.1:n.1624A>T (TAP1)
ENST00000354258.4:c.2209A>T (TAP1) ENSP00000346206.4:p.Ser737Cys
ENST00000395330.5:c.-10+2805T>A (PSMB9) ENSP00000378739.1:n.-10+2805T>A
ENST00000414474.5:c.-10+2209T>A (PSMB9) ENSP00000394363.1:n.-10+2209T>A
ENST00000486332.1:n.1954A>T (TAP1)
ENST00000487296.1:n.909A>T (TAP1)
NM_000593.5:c.2209A>T (TAP1) NP_000584.2:p.Ser737Cys
NM_001292022.1:c.1426A>T (TAP1) NP_001278951.1:p.Ser476Cys
NM_001292022.2:c.1426A>T (TAP1) NP_001278951.1:p.Ser476Cys
NM_000593.6:c.2029A>T (TAP1) MANE Select NP_000584.3:p.Ser677Cys