Canonical Allele Identifier: CA137011921

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32845677C>A , CM000668.2:g.32845677C>A GRCh38
NC_000006.11:g.32813454C>A , CM000668.1:g.32813454C>A GRCh37
NC_000006.10:g.32921432C>A NCBI36
NG_011759.1:g.13295G>T
NG_028165.1:g.4259G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000593.6:c.2149G>T (TAP1) MANE Select NP_000584.3:p.Gly717Ter
ENST00000354258.5:c.2149G>T (TAP1) MANE Select ENSP00000346206.5:p.Gly717Ter
NM_000593.5:c.2329G>T (TAP1) NP_000584.2:p.Gly777Ter
NM_001292022.1:c.1546G>T (TAP1) NP_001278951.1:p.Gly516Ter
NM_001292022.2:c.1546G>T (TAP1) NP_001278951.1:p.Gly516Ter
NR_037173.1:n.675C>A (PSMB8-AS1)
NR_037174.1:n.537C>A (PSMB8-AS1)
NR_037175.1:n.510C>A (PSMB8-AS1)
NR_037176.1:n.449C>A (PSMB8-AS1)
ENST00000354258.4:c.2329G>T (TAP1) ENSP00000346206.4:p.Gly777Ter
ENST00000395330.5:c.-10+1403C>A (PSMB9) ENSP00000378739.1:n.-10+1403C>A
ENST00000414474.5:c.-10+807C>A (PSMB9) ENSP00000394363.1:n.-10+807C>A
ENST00000486332.1:n.2074G>T (TAP1)
ENST00000487296.1:n.1029G>T (TAP1)
ENST00000643049.2:c.694G>T (TAP1) ENSP00000494148.2:p.Gly232Ter
ENST00000643923.1:n.1585G>T (TAP1)
ENST00000645078.1:n.1744G>T (TAP1)
ENST00000698420.1:c.*1301G>T (TAP1) ENSP00000513708.1:n.*1301G>T
ENST00000698421.1:c.*1043G>T (TAP1) ENSP00000513709.1:n.*1043G>T
ENST00000698422.1:c.1960G>T (TAP1) ENSP00000513710.1:p.Gly654Ter
ENST00000698423.1:c.2244G>T (TAP1) ENSP00000513711.1:p.Lys748Asn
ENST00000698424.1:c.2020G>T (TAP1) ENSP00000513712.1:p.Gly674Ter