Canonical Allele Identifier: CA363590696

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847078C>A , CM000668.2:g.32847078C>A GRCh38
NC_000006.11:g.32814855C>A , CM000668.1:g.32814855C>A GRCh37
NC_000006.10:g.32922833C>A NCBI36
NG_011759.1:g.11894G>T
NG_028165.1:g.2858G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1182G>T (TAP1) ENSP00000513708.1:n.*1182G>T
ENST00000698421.1:c.*924G>T (TAP1) ENSP00000513709.1:n.*924G>T
ENST00000698422.1:c.1841G>T (TAP1) ENSP00000513710.1:p.Ser614Ile
ENST00000698423.1:c.2030G>T (TAP1) ENSP00000513711.1:p.Ser677Ile
ENST00000698424.1:c.1901G>T (TAP1) ENSP00000513712.1:p.Ser634Ile
ENST00000354258.5:c.2030G>T (TAP1) MANE Select ENSP00000346206.5:p.Ser677Ile
ENST00000643049.2:c.575G>T (TAP1) ENSP00000494148.2:p.Ser192Ile
ENST00000643923.1:n.1466G>T (TAP1)
ENST00000645078.1:n.1625G>T (TAP1)
ENST00000354258.4:c.2210G>T (TAP1) ENSP00000346206.4:p.Ser737Ile
ENST00000395330.5:c.-10+2804C>A (PSMB9) ENSP00000378739.1:n.-10+2804C>A
ENST00000414474.5:c.-10+2208C>A (PSMB9) ENSP00000394363.1:n.-10+2208C>A
ENST00000486332.1:n.1955G>T (TAP1)
ENST00000487296.1:n.910G>T (TAP1)
NM_000593.5:c.2210G>T (TAP1) NP_000584.2:p.Ser737Ile
NM_001292022.1:c.1427G>T (TAP1) NP_001278951.1:p.Ser476Ile
NM_001292022.2:c.1427G>T (TAP1) NP_001278951.1:p.Ser476Ile
NM_000593.6:c.2030G>T (TAP1) MANE Select NP_000584.3:p.Ser677Ile