Canonical Allele Identifier: CA363590731

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847094C>G , CM000668.2:g.32847094C>G GRCh38
NC_000006.11:g.32814871C>G , CM000668.1:g.32814871C>G GRCh37
NC_000006.10:g.32922849C>G NCBI36
NG_011759.1:g.11878G>C
NG_028165.1:g.2842G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1166G>C (TAP1) ENSP00000513708.1:n.*1166G>C
ENST00000698421.1:c.*908G>C (TAP1) ENSP00000513709.1:n.*908G>C
ENST00000698422.1:c.1825G>C (TAP1) ENSP00000513710.1:p.Ala609Pro
ENST00000698423.1:c.2014G>C (TAP1) ENSP00000513711.1:p.Ala672Pro
ENST00000698424.1:c.1885G>C (TAP1) ENSP00000513712.1:p.Ala629Pro
ENST00000354258.5:c.2014G>C (TAP1) MANE Select ENSP00000346206.5:p.Ala672Pro
ENST00000643049.2:c.559G>C (TAP1) ENSP00000494148.2:p.Ala187Pro
ENST00000643923.1:n.1450G>C (TAP1)
ENST00000645078.1:n.1609G>C (TAP1)
ENST00000354258.4:c.2194G>C (TAP1) ENSP00000346206.4:p.Ala732Pro
ENST00000395330.5:c.-10+2820C>G (PSMB9) ENSP00000378739.1:n.-10+2820C>G
ENST00000414474.5:c.-10+2224C>G (PSMB9) ENSP00000394363.1:n.-10+2224C>G
ENST00000486332.1:n.1939G>C (TAP1)
ENST00000487296.1:n.894G>C (TAP1)
NM_000593.5:c.2194G>C (TAP1) NP_000584.2:p.Ala732Pro
NM_001292022.1:c.1411G>C (TAP1) NP_001278951.1:p.Ala471Pro
NM_001292022.2:c.1411G>C (TAP1) NP_001278951.1:p.Ala471Pro
NM_000593.6:c.2014G>C (TAP1) MANE Select NP_000584.3:p.Ala672Pro