Canonical Allele Identifier: CA363590770

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847112G>C , CM000668.2:g.32847112G>C GRCh38
NC_000006.11:g.32814889G>C , CM000668.1:g.32814889G>C GRCh37
NC_000006.10:g.32922867G>C NCBI36
NG_011759.1:g.11860C>G
NG_028165.1:g.2824C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1148C>G (TAP1) ENSP00000513708.1:n.*1148C>G
ENST00000698421.1:c.*890C>G (TAP1) ENSP00000513709.1:n.*890C>G
ENST00000698422.1:c.1807C>G (TAP1) ENSP00000513710.1:p.Leu603Val
ENST00000698423.1:c.1996C>G (TAP1) ENSP00000513711.1:p.Leu666Val
ENST00000698424.1:c.1867C>G (TAP1) ENSP00000513712.1:p.Leu623Val
ENST00000354258.5:c.1996C>G (TAP1) MANE Select ENSP00000346206.5:p.Leu666Val
ENST00000643049.2:c.541C>G (TAP1) ENSP00000494148.2:p.Leu181Val
ENST00000643923.1:n.1432C>G (TAP1)
ENST00000645078.1:n.1591C>G (TAP1)
ENST00000354258.4:c.2176C>G (TAP1) ENSP00000346206.4:p.Leu726Val
ENST00000395330.5:c.-10+2838G>C (PSMB9) ENSP00000378739.1:n.-10+2838G>C
ENST00000414474.5:c.-10+2242G>C (PSMB9) ENSP00000394363.1:n.-10+2242G>C
ENST00000486332.1:n.1921C>G (TAP1)
ENST00000487296.1:n.876C>G (TAP1)
NM_000593.5:c.2176C>G (TAP1) NP_000584.2:p.Leu726Val
NM_001292022.1:c.1393C>G (TAP1) NP_001278951.1:p.Leu465Val
NM_001292022.2:c.1393C>G (TAP1) NP_001278951.1:p.Leu465Val
NM_000593.6:c.1996C>G (TAP1) MANE Select NP_000584.3:p.Leu666Val