Canonical Allele Identifier: CA363590748

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847102G>T , CM000668.2:g.32847102G>T GRCh38
NC_000006.11:g.32814879G>T , CM000668.1:g.32814879G>T GRCh37
NC_000006.10:g.32922857G>T NCBI36
NG_011759.1:g.11870C>A
NG_028165.1:g.2834C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1158C>A (TAP1) ENSP00000513708.1:n.*1158C>A
ENST00000698421.1:c.*900C>A (TAP1) ENSP00000513709.1:n.*900C>A
ENST00000698422.1:c.1817C>A (TAP1) ENSP00000513710.1:p.Ala606Asp
ENST00000698423.1:c.2006C>A (TAP1) ENSP00000513711.1:p.Ala669Asp
ENST00000698424.1:c.1877C>A (TAP1) ENSP00000513712.1:p.Ala626Asp
ENST00000354258.5:c.2006C>A (TAP1) MANE Select ENSP00000346206.5:p.Ala669Asp
ENST00000643049.2:c.551C>A (TAP1) ENSP00000494148.2:p.Ala184Asp
ENST00000643923.1:n.1442C>A (TAP1)
ENST00000645078.1:n.1601C>A (TAP1)
ENST00000354258.4:c.2186C>A (TAP1) ENSP00000346206.4:p.Ala729Asp
ENST00000395330.5:c.-10+2828G>T (PSMB9) ENSP00000378739.1:n.-10+2828G>T
ENST00000414474.5:c.-10+2232G>T (PSMB9) ENSP00000394363.1:n.-10+2232G>T
ENST00000486332.1:n.1931C>A (TAP1)
ENST00000487296.1:n.886C>A (TAP1)
NM_000593.5:c.2186C>A (TAP1) NP_000584.2:p.Ala729Asp
NM_001292022.1:c.1403C>A (TAP1) NP_001278951.1:p.Ala468Asp
NM_001292022.2:c.1403C>A (TAP1) NP_001278951.1:p.Ala468Asp
NM_000593.6:c.2006C>A (TAP1) MANE Select NP_000584.3:p.Ala669Asp