Canonical Allele Identifier: CA363592956

Linked Data

dbSNP Id: rs1057141

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32850997T>G , CM000668.2:g.32850997T>G GRCh38
NC_000006.11:g.32818774T>G , CM000668.1:g.32818774T>G GRCh37
NC_000006.10:g.32926752T>G NCBI36
NG_011759.1:g.7975A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000698420.1:c.*149A>C (TAP1) ENSP00000513708.1:n.*149A>C
ENST00000698421.1:c.845-480A>C (TAP1) ENSP00000513709.1:n.845-480A>C
ENST00000698422.1:c.997A>C (TAP1) ENSP00000513710.1:p.Ile333Leu
ENST00000698423.1:c.997A>C (TAP1) ENSP00000513711.1:p.Ile333Leu
ENST00000698424.1:c.997A>C (TAP1) ENSP00000513712.1:p.Ile333Leu
ENST00000354258.5:c.997A>C (TAP1) MANE Select ENSP00000346206.5:p.Ile333Leu
ENST00000643049.2:c.141+2499A>C (TAP1) ENSP00000494148.2:n.141+2499A>C
ENST00000643923.1:n.433A>C (TAP1)
ENST00000645078.1:n.592A>C (TAP1)
ENST00000354258.4:c.1177A>C (TAP1) ENSP00000346206.4:p.Ile393Leu
ENST00000395330.5:c.-9-5141T>G (PSMB9) ENSP00000378739.1:n.-9-5141T>G
ENST00000414474.5:c.-9-5141T>G (PSMB9) ENSP00000394363.1:n.-9-5141T>G
NM_000593.5:c.1177A>C (TAP1) NP_000584.2:p.Ile393Leu
NM_001292022.1:c.394A>C (TAP1) NP_001278951.1:p.Ile132Leu
NM_001292022.2:c.394A>C (TAP1) NP_001278951.1:p.Ile132Leu
NM_000593.6:c.997A>C (TAP1) MANE Select NP_000584.3:p.Ile333Leu