Canonical Allele Identifier: CA363590698

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1182G>A (TAP1) ENSP00000513708.1:n.*1182G>A
ENST00000698421.1:c.*924G>A (TAP1) ENSP00000513709.1:n.*924G>A
ENST00000698422.1:c.1841G>A (TAP1) ENSP00000513710.1:p.Ser614Asn
ENST00000698423.1:c.2030G>A (TAP1) ENSP00000513711.1:p.Ser677Asn
ENST00000698424.1:c.1901G>A (TAP1) ENSP00000513712.1:p.Ser634Asn
ENST00000354258.5:c.2030G>A (TAP1) MANE Select ENSP00000346206.5:p.Ser677Asn
ENST00000643049.2:c.575G>A (TAP1) ENSP00000494148.2:p.Ser192Asn
ENST00000643923.1:n.1466G>A (TAP1)
ENST00000645078.1:n.1625G>A (TAP1)
ENST00000354258.4:c.2210G>A (TAP1) ENSP00000346206.4:p.Ser737Asn
ENST00000395330.5:c.-10+2804C>T (PSMB9) ENSP00000378739.1:n.-10+2804C>T
ENST00000414474.5:c.-10+2208C>T (PSMB9) ENSP00000394363.1:n.-10+2208C>T
ENST00000486332.1:n.1955G>A (TAP1)
ENST00000487296.1:n.910G>A (TAP1)
NM_000593.5:c.2210G>A (TAP1) NP_000584.2:p.Ser737Asn
NM_001292022.1:c.1427G>A (TAP1) NP_001278951.1:p.Ser476Asn
NM_001292022.2:c.1427G>A (TAP1) NP_001278951.1:p.Ser476Asn
NM_000593.6:c.2030G>A (TAP1) MANE Select NP_000584.3:p.Ser677Asn