Canonical Allele Identifier: CA2678189074

Linked Data

gnomAD v4: 6-32847037-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847037G>T , CM000668.2:g.32847037G>T GRCh38
NC_000006.11:g.32814814G>T , CM000668.1:g.32814814G>T GRCh37
NC_000006.10:g.32922792G>T NCBI36
NG_011759.1:g.11935C>A
NG_028165.1:g.2899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1192+31C>A (TAP1) ENSP00000513708.1:n.*1192+31C>A
ENST00000698421.1:c.*934+31C>A (TAP1) ENSP00000513709.1:n.*934+31C>A
ENST00000698422.1:c.1851+31C>A (TAP1) ENSP00000513710.1:n.1851+31C>A
ENST00000698423.1:c.2040+31C>A (TAP1) ENSP00000513711.1:n.2040+31C>A
ENST00000698424.1:c.1911+31C>A (TAP1) ENSP00000513712.1:n.1911+31C>A
ENST00000354258.5:c.2040+31C>A (TAP1) MANE Select ENSP00000346206.5:n.2040+31C>A
ENST00000643049.2:c.585+31C>A (TAP1) ENSP00000494148.2:n.585+31C>A
ENST00000643923.1:n.1476+31C>A (TAP1)
ENST00000645078.1:n.1635+31C>A (TAP1)
ENST00000354258.4:c.2220+31C>A (TAP1) ENSP00000346206.4:n.2220+31C>A
ENST00000395330.5:c.-10+2763G>T (PSMB9) ENSP00000378739.1:n.-10+2763G>T
ENST00000414474.5:c.-10+2167G>T (PSMB9) ENSP00000394363.1:n.-10+2167G>T
ENST00000486332.1:n.1965+31C>A (TAP1)
ENST00000487296.1:n.920+31C>A (TAP1)
NM_000593.5:c.2220+31C>A (TAP1) NP_000584.2:n.2220+31C>A
NM_001292022.1:c.1437+31C>A (TAP1) NP_001278951.1:n.1437+31C>A
NM_001292022.2:c.1437+31C>A (TAP1) NP_001278951.1:n.1437+31C>A
NM_000593.6:c.2040+31C>A (TAP1) MANE Select NP_000584.3:n.2040+31C>A