Canonical Allele Identifier: CA363590948

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847201A>G , CM000668.2:g.32847201A>G GRCh38
NC_000006.11:g.32814978A>G , CM000668.1:g.32814978A>G GRCh37
NC_000006.10:g.32922956A>G NCBI36
NG_011759.1:g.11771T>C
NG_028165.1:g.2735T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1059T>C (TAP1) ENSP00000513708.1:n.*1059T>C
ENST00000698421.1:c.*801T>C (TAP1) ENSP00000513709.1:n.*801T>C
ENST00000698422.1:c.1718T>C (TAP1) ENSP00000513710.1:p.Val573Ala
ENST00000698423.1:c.1907T>C (TAP1) ENSP00000513711.1:p.Val636Ala
ENST00000698424.1:c.1778T>C (TAP1) ENSP00000513712.1:p.Val593Ala
ENST00000354258.5:c.1907T>C (TAP1) MANE Select ENSP00000346206.5:p.Val636Ala
ENST00000643049.2:c.452T>C (TAP1) ENSP00000494148.2:p.Val151Ala
ENST00000643923.1:n.1343T>C (TAP1)
ENST00000645078.1:n.1502T>C (TAP1)
ENST00000354258.4:c.2087T>C (TAP1) ENSP00000346206.4:p.Val696Ala
ENST00000395330.5:c.-10+2927A>G (PSMB9) ENSP00000378739.1:n.-10+2927A>G
ENST00000414474.5:c.-10+2331A>G (PSMB9) ENSP00000394363.1:n.-10+2331A>G
ENST00000486332.1:n.1832T>C (TAP1)
ENST00000487296.1:n.787T>C (TAP1)
NM_000593.5:c.2087T>C (TAP1) NP_000584.2:p.Val696Ala
NM_001292022.1:c.1304T>C (TAP1) NP_001278951.1:p.Val435Ala
NM_001292022.2:c.1304T>C (TAP1) NP_001278951.1:p.Val435Ala
NM_000593.6:c.1907T>C (TAP1) MANE Select NP_000584.3:p.Val636Ala