Canonical Allele Identifier: CA449759826

Linked Data

MyVariant Identifiers: chr6:g.32814866C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847089C>A , CM000668.2:g.32847089C>A GRCh38
NC_000006.11:g.32814866C>A , CM000668.1:g.32814866C>A GRCh37
NC_000006.10:g.32922844C>A NCBI36
NG_011759.1:g.11883G>T
NG_028165.1:g.2847G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1171G>T (TAP1) ENSP00000513708.1:n.*1171G>T
ENST00000698421.1:c.*913G>T (TAP1) ENSP00000513709.1:n.*913G>T
ENST00000698422.1:c.1830G>T (TAP1) ENSP00000513710.1:p.Leu610=
ENST00000698423.1:c.2019G>T (TAP1) ENSP00000513711.1:p.Leu673=
ENST00000698424.1:c.1890G>T (TAP1) ENSP00000513712.1:p.Leu630=
ENST00000354258.5:c.2019G>T (TAP1) MANE Select ENSP00000346206.5:p.Leu673=
ENST00000643049.2:c.564G>T (TAP1) ENSP00000494148.2:p.Leu188=
ENST00000643923.1:n.1455G>T (TAP1)
ENST00000645078.1:n.1614G>T (TAP1)
ENST00000354258.4:c.2199G>T (TAP1) ENSP00000346206.4:p.Leu733=
ENST00000395330.5:c.-10+2815C>A (PSMB9) ENSP00000378739.1:n.-10+2815C>A
ENST00000414474.5:c.-10+2219C>A (PSMB9) ENSP00000394363.1:n.-10+2219C>A
ENST00000486332.1:n.1944G>T (TAP1)
ENST00000487296.1:n.899G>T (TAP1)
NM_000593.5:c.2199G>T (TAP1) NP_000584.2:p.Leu733=
NM_001292022.1:c.1416G>T (TAP1) NP_001278951.1:p.Leu472=
NM_001292022.2:c.1416G>T (TAP1) NP_001278951.1:p.Leu472=
NM_000593.6:c.2019G>T (TAP1) MANE Select NP_000584.3:p.Leu673=