Canonical Allele Identifier: CA2678190802

Linked Data

gnomAD v4: 6-32848595-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32848595T>C , CM000668.2:g.32848595T>C GRCh38
NC_000006.11:g.32816372T>C , CM000668.1:g.32816372T>C GRCh37
NC_000006.10:g.32924350T>C NCBI36
NG_011759.1:g.10377A>G
NG_028165.1:g.1341A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698420.1:c.*718+57A>G (TAP1) ENSP00000513708.1:n.*718+57A>G
ENST00000698421.1:c.*460+57A>G (TAP1) ENSP00000513709.1:n.*460+57A>G
ENST00000698422.1:c.1377+395A>G (TAP1) ENSP00000513710.1:n.1377+395A>G
ENST00000698423.1:c.1566+57A>G (TAP1) ENSP00000513711.1:n.1566+57A>G
ENST00000698424.1:c.1437+57A>G (TAP1) ENSP00000513712.1:n.1437+57A>G
ENST00000354258.5:c.1566+57A>G (TAP1) MANE Select ENSP00000346206.5:n.1566+57A>G
ENST00000643049.2:c.142-533A>G (TAP1) ENSP00000494148.2:n.142-533A>G
ENST00000643923.1:n.1002+57A>G (TAP1)
ENST00000645078.1:n.1161+57A>G (TAP1)
ENST00000354258.4:c.1746+57A>G (TAP1) ENSP00000346206.4:n.1746+57A>G
ENST00000395330.5:c.-10+4321T>C (PSMB9) ENSP00000378739.1:n.-10+4321T>C
ENST00000414474.5:c.-10+3725T>C (PSMB9) ENSP00000394363.1:n.-10+3725T>C
ENST00000486332.1:n.1491+57A>G (TAP1)
NM_000593.5:c.1746+57A>G (TAP1) NP_000584.2:n.1746+57A>G
NM_001292022.1:c.963+57A>G (TAP1) NP_001278951.1:n.963+57A>G
NM_001292022.2:c.963+57A>G (TAP1) NP_001278951.1:n.963+57A>G
NM_000593.6:c.1566+57A>G (TAP1) MANE Select NP_000584.3:n.1566+57A>G