Canonical Allele Identifier: CA449759861

Linked Data

gnomAD v4: 6-32847110-C-T
MyVariant Identifiers: chr6:g.32814887C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847110C>T , CM000668.2:g.32847110C>T GRCh38
NC_000006.11:g.32814887C>T , CM000668.1:g.32814887C>T GRCh37
NC_000006.10:g.32922865C>T NCBI36
NG_011759.1:g.11862G>A
NG_028165.1:g.2826G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1150G>A (TAP1) ENSP00000513708.1:n.*1150G>A
ENST00000698421.1:c.*892G>A (TAP1) ENSP00000513709.1:n.*892G>A
ENST00000698422.1:c.1809G>A (TAP1) ENSP00000513710.1:p.Leu603=
ENST00000698423.1:c.1998G>A (TAP1) ENSP00000513711.1:p.Leu666=
ENST00000698424.1:c.1869G>A (TAP1) ENSP00000513712.1:p.Leu623=
ENST00000354258.5:c.1998G>A (TAP1) MANE Select ENSP00000346206.5:p.Leu666=
ENST00000643049.2:c.543G>A (TAP1) ENSP00000494148.2:p.Leu181=
ENST00000643923.1:n.1434G>A (TAP1)
ENST00000645078.1:n.1593G>A (TAP1)
ENST00000354258.4:c.2178G>A (TAP1) ENSP00000346206.4:p.Leu726=
ENST00000395330.5:c.-10+2836C>T (PSMB9) ENSP00000378739.1:n.-10+2836C>T
ENST00000414474.5:c.-10+2240C>T (PSMB9) ENSP00000394363.1:n.-10+2240C>T
ENST00000486332.1:n.1923G>A (TAP1)
ENST00000487296.1:n.878G>A (TAP1)
NM_000593.5:c.2178G>A (TAP1) NP_000584.2:p.Leu726=
NM_001292022.1:c.1395G>A (TAP1) NP_001278951.1:p.Leu465=
NM_001292022.2:c.1395G>A (TAP1) NP_001278951.1:p.Leu465=
NM_000593.6:c.1998G>A (TAP1) MANE Select NP_000584.3:p.Leu666=