Canonical Allele Identifier: CA363590917

Gene: TAP1 PSMB9

Linked Data

• gnomAD v4: 6-32847186-C-T
• MyVariant Identifiers: chr6:g.32814963C>T (hg19) ; chr6:g.32847186C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847186C>T , CM000668.2:g.32847186C>T	GRCh38
NC_000006.11:g.32814963C>T , CM000668.1:g.32814963C>T	GRCh37
NC_000006.10:g.32922941C>T	NCBI36
NG_011759.1:g.11786G>A
NG_028165.1:g.2750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1074G>A (TAP1)	ENSP00000513708.1:n.*1074G>A
ENST00000698421.1:c.*816G>A (TAP1)	ENSP00000513709.1:n.*816G>A
ENST00000698422.1:c.1733G>A (TAP1)	ENSP00000513710.1:p.Ser578Asn
ENST00000698423.1:c.1922G>A (TAP1)	ENSP00000513711.1:p.Ser641Asn
ENST00000698424.1:c.1793G>A (TAP1)	ENSP00000513712.1:p.Ser598Asn
ENST00000354258.5:c.1922G>A (TAP1) MANE Select	ENSP00000346206.5:p.Ser641Asn
ENST00000643049.2:c.467G>A (TAP1)	ENSP00000494148.2:p.Ser156Asn
ENST00000643923.1:n.1358G>A (TAP1)
ENST00000645078.1:n.1517G>A (TAP1)
ENST00000354258.4:c.2102G>A (TAP1)	ENSP00000346206.4:p.Ser701Asn
ENST00000395330.5:c.-10+2912C>T (PSMB9)	ENSP00000378739.1:n.-10+2912C>T
ENST00000414474.5:c.-10+2316C>T (PSMB9)	ENSP00000394363.1:n.-10+2316C>T
ENST00000486332.1:n.1847G>A (TAP1)
ENST00000487296.1:n.802G>A (TAP1)
NM_000593.5:c.2102G>A (TAP1)	NP_000584.2:p.Ser701Asn
NM_001292022.1:c.1319G>A (TAP1)	NP_001278951.1:p.Ser440Asn
NM_001292022.2:c.1319G>A (TAP1)	NP_001278951.1:p.Ser440Asn
NM_000593.6:c.1922G>A (TAP1) MANE Select	NP_000584.3:p.Ser641Asn