Canonical Allele Identifier: CA363590766

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847109C>T , CM000668.2:g.32847109C>T GRCh38
NC_000006.11:g.32814886C>T , CM000668.1:g.32814886C>T GRCh37
NC_000006.10:g.32922864C>T NCBI36
NG_011759.1:g.11863G>A
NG_028165.1:g.2827G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000698420.1:c.*1151G>A (TAP1) ENSP00000513708.1:n.*1151G>A
ENST00000698421.1:c.*893G>A (TAP1) ENSP00000513709.1:n.*893G>A
ENST00000698422.1:c.1810G>A (TAP1) ENSP00000513710.1:p.Asp604Asn
ENST00000698423.1:c.1999G>A (TAP1) ENSP00000513711.1:p.Asp667Asn
ENST00000698424.1:c.1870G>A (TAP1) ENSP00000513712.1:p.Asp624Asn
ENST00000354258.5:c.1999G>A (TAP1) MANE Select ENSP00000346206.5:p.Asp667Asn
ENST00000643049.2:c.544G>A (TAP1) ENSP00000494148.2:p.Asp182Asn
ENST00000643923.1:n.1435G>A (TAP1)
ENST00000645078.1:n.1594G>A (TAP1)
ENST00000354258.4:c.2179G>A (TAP1) ENSP00000346206.4:p.Asp727Asn
ENST00000395330.5:c.-10+2835C>T (PSMB9) ENSP00000378739.1:n.-10+2835C>T
ENST00000414474.5:c.-10+2239C>T (PSMB9) ENSP00000394363.1:n.-10+2239C>T
ENST00000486332.1:n.1924G>A (TAP1)
ENST00000487296.1:n.879G>A (TAP1)
NM_000593.5:c.2179G>A (TAP1) NP_000584.2:p.Asp727Asn
NM_001292022.1:c.1396G>A (TAP1) NP_001278951.1:p.Asp466Asn
NM_001292022.2:c.1396G>A (TAP1) NP_001278951.1:p.Asp466Asn
NM_000593.6:c.1999G>A (TAP1) MANE Select NP_000584.3:p.Asp667Asn