Canonical Allele Identifier: CA3746745

Linked Data

dbSNP Id: rs753970565
gnomAD v2: 6-32816378-T-C
gnomAD v3: 6-32848601-T-C
gnomAD v4: 6-32848601-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32848601T>C , CM000668.2:g.32848601T>C GRCh38
NC_000006.11:g.32816378T>C , CM000668.1:g.32816378T>C GRCh37
NC_000006.10:g.32924356T>C NCBI36
NG_011759.1:g.10371A>G
NG_028165.1:g.1335A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*718+51A>G (TAP1) ENSP00000513708.1:n.*718+51A>G
ENST00000698421.1:c.*460+51A>G (TAP1) ENSP00000513709.1:n.*460+51A>G
ENST00000698422.1:c.1377+389A>G (TAP1) ENSP00000513710.1:n.1377+389A>G
ENST00000698423.1:c.1566+51A>G (TAP1) ENSP00000513711.1:n.1566+51A>G
ENST00000698424.1:c.1437+51A>G (TAP1) ENSP00000513712.1:n.1437+51A>G
ENST00000354258.5:c.1566+51A>G (TAP1) MANE Select ENSP00000346206.5:n.1566+51A>G
ENST00000643049.2:c.142-539A>G (TAP1) ENSP00000494148.2:n.142-539A>G
ENST00000643923.1:n.1002+51A>G (TAP1)
ENST00000645078.1:n.1161+51A>G (TAP1)
ENST00000354258.4:c.1746+51A>G (TAP1) ENSP00000346206.4:n.1746+51A>G
ENST00000395330.5:c.-10+4327T>C (PSMB9) ENSP00000378739.1:n.-10+4327T>C
ENST00000414474.5:c.-10+3731T>C (PSMB9) ENSP00000394363.1:n.-10+3731T>C
ENST00000486332.1:n.1491+51A>G (TAP1)
NM_000593.5:c.1746+51A>G (TAP1) NP_000584.2:n.1746+51A>G
NM_001292022.1:c.963+51A>G (TAP1) NP_001278951.1:n.963+51A>G
NM_001292022.2:c.963+51A>G (TAP1) NP_001278951.1:n.963+51A>G
NM_000593.6:c.1566+51A>G (TAP1) MANE Select NP_000584.3:n.1566+51A>G