Canonical Allele Identifier: CA566698063

Linked Data

dbSNP Id: rs1207983904
gnomAD v2: 6-32816350-A-C
gnomAD v3: 6-32848573-A-C
gnomAD v4: 6-32848573-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32848573A>C , CM000668.2:g.32848573A>C GRCh38
NC_000006.11:g.32816350A>C , CM000668.1:g.32816350A>C GRCh37
NC_000006.10:g.32924328A>C NCBI36
NG_011759.1:g.10399T>G
NG_028165.1:g.1363T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*718+79T>G (TAP1) ENSP00000513708.1:n.*718+79T>G
ENST00000698421.1:c.*460+79T>G (TAP1) ENSP00000513709.1:n.*460+79T>G
ENST00000698422.1:c.1377+417T>G (TAP1) ENSP00000513710.1:n.1377+417T>G
ENST00000698423.1:c.1566+79T>G (TAP1) ENSP00000513711.1:n.1566+79T>G
ENST00000698424.1:c.1437+79T>G (TAP1) ENSP00000513712.1:n.1437+79T>G
ENST00000354258.5:c.1566+79T>G (TAP1) MANE Select ENSP00000346206.5:n.1566+79T>G
ENST00000643049.2:c.142-511T>G (TAP1) ENSP00000494148.2:n.142-511T>G
ENST00000643923.1:n.1002+79T>G (TAP1)
ENST00000645078.1:n.1161+79T>G (TAP1)
ENST00000354258.4:c.1746+79T>G (TAP1) ENSP00000346206.4:n.1746+79T>G
ENST00000395330.5:c.-10+4299A>C (PSMB9) ENSP00000378739.1:n.-10+4299A>C
ENST00000414474.5:c.-10+3703A>C (PSMB9) ENSP00000394363.1:n.-10+3703A>C
ENST00000486332.1:n.1491+79T>G (TAP1)
NM_000593.5:c.1746+79T>G (TAP1) NP_000584.2:n.1746+79T>G
NM_001292022.1:c.963+79T>G (TAP1) NP_001278951.1:n.963+79T>G
NM_001292022.2:c.963+79T>G (TAP1) NP_001278951.1:n.963+79T>G
NM_000593.6:c.1566+79T>G (TAP1) MANE Select NP_000584.3:n.1566+79T>G