Canonical Allele Identifier: CA363590721

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847088C>G , CM000668.2:g.32847088C>G GRCh38
NC_000006.11:g.32814865C>G , CM000668.1:g.32814865C>G GRCh37
NC_000006.10:g.32922843C>G NCBI36
NG_011759.1:g.11884G>C
NG_028165.1:g.2848G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1172G>C (TAP1) ENSP00000513708.1:n.*1172G>C
ENST00000698421.1:c.*914G>C (TAP1) ENSP00000513709.1:n.*914G>C
ENST00000698422.1:c.1831G>C (TAP1) ENSP00000513710.1:p.Asp611His
ENST00000698423.1:c.2020G>C (TAP1) ENSP00000513711.1:p.Asp674His
ENST00000698424.1:c.1891G>C (TAP1) ENSP00000513712.1:p.Asp631His
ENST00000354258.5:c.2020G>C (TAP1) MANE Select ENSP00000346206.5:p.Asp674His
ENST00000643049.2:c.565G>C (TAP1) ENSP00000494148.2:p.Asp189His
ENST00000643923.1:n.1456G>C (TAP1)
ENST00000645078.1:n.1615G>C (TAP1)
ENST00000354258.4:c.2200G>C (TAP1) ENSP00000346206.4:p.Asp734His
ENST00000395330.5:c.-10+2814C>G (PSMB9) ENSP00000378739.1:n.-10+2814C>G
ENST00000414474.5:c.-10+2218C>G (PSMB9) ENSP00000394363.1:n.-10+2218C>G
ENST00000486332.1:n.1945G>C (TAP1)
ENST00000487296.1:n.900G>C (TAP1)
NM_000593.5:c.2200G>C (TAP1) NP_000584.2:p.Asp734His
NM_001292022.1:c.1417G>C (TAP1) NP_001278951.1:p.Asp473His
NM_001292022.2:c.1417G>C (TAP1) NP_001278951.1:p.Asp473His
NM_000593.6:c.2020G>C (TAP1) MANE Select NP_000584.3:p.Asp674His