Canonical Allele Identifier: CA449759809

Linked Data

MyVariant Identifiers: chr6:g.32814850A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847073A>G , CM000668.2:g.32847073A>G GRCh38
NC_000006.11:g.32814850A>G , CM000668.1:g.32814850A>G GRCh37
NC_000006.10:g.32922828A>G NCBI36
NG_011759.1:g.11899T>C
NG_028165.1:g.2863T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1187T>C (TAP1) ENSP00000513708.1:n.*1187T>C
ENST00000698421.1:c.*929T>C (TAP1) ENSP00000513709.1:n.*929T>C
ENST00000698422.1:c.1846T>C (TAP1) ENSP00000513710.1:p.Leu616=
ENST00000698423.1:c.2035T>C (TAP1) ENSP00000513711.1:p.Leu679=
ENST00000698424.1:c.1906T>C (TAP1) ENSP00000513712.1:p.Leu636=
ENST00000354258.5:c.2035T>C (TAP1) MANE Select ENSP00000346206.5:p.Leu679=
ENST00000643049.2:c.580T>C (TAP1) ENSP00000494148.2:p.Leu194=
ENST00000643923.1:n.1471T>C (TAP1)
ENST00000645078.1:n.1630T>C (TAP1)
ENST00000354258.4:c.2215T>C (TAP1) ENSP00000346206.4:p.Leu739=
ENST00000395330.5:c.-10+2799A>G (PSMB9) ENSP00000378739.1:n.-10+2799A>G
ENST00000414474.5:c.-10+2203A>G (PSMB9) ENSP00000394363.1:n.-10+2203A>G
ENST00000486332.1:n.1960T>C (TAP1)
ENST00000487296.1:n.915T>C (TAP1)
NM_000593.5:c.2215T>C (TAP1) NP_000584.2:p.Leu739=
NM_001292022.1:c.1432T>C (TAP1) NP_001278951.1:p.Leu478=
NM_001292022.2:c.1432T>C (TAP1) NP_001278951.1:p.Leu478=
NM_000593.6:c.2035T>C (TAP1) MANE Select NP_000584.3:p.Leu679=