Canonical Allele Identifier: CA363590723

Gene: TAP1 PSMB9

Linked Data

• MyVariant Identifiers: chr6:g.32814867A>G (hg19) ; chr6:g.32847090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32847090A>G , CM000668.2:g.32847090A>G	GRCh38
NC_000006.11:g.32814867A>G , CM000668.1:g.32814867A>G	GRCh37
NC_000006.10:g.32922845A>G	NCBI36
NG_011759.1:g.11882T>C
NG_028165.1:g.2846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698420.1:c.*1170T>C (TAP1)	ENSP00000513708.1:n.*1170T>C
ENST00000698421.1:c.*912T>C (TAP1)	ENSP00000513709.1:n.*912T>C
ENST00000698422.1:c.1829T>C (TAP1)	ENSP00000513710.1:p.Leu610Pro
ENST00000698423.1:c.2018T>C (TAP1)	ENSP00000513711.1:p.Leu673Pro
ENST00000698424.1:c.1889T>C (TAP1)	ENSP00000513712.1:p.Leu630Pro
ENST00000354258.5:c.2018T>C (TAP1) MANE Select	ENSP00000346206.5:p.Leu673Pro
ENST00000643049.2:c.563T>C (TAP1)	ENSP00000494148.2:p.Leu188Pro
ENST00000643923.1:n.1454T>C (TAP1)
ENST00000645078.1:n.1613T>C (TAP1)
ENST00000354258.4:c.2198T>C (TAP1)	ENSP00000346206.4:p.Leu733Pro
ENST00000395330.5:c.-10+2816A>G (PSMB9)	ENSP00000378739.1:n.-10+2816A>G
ENST00000414474.5:c.-10+2220A>G (PSMB9)	ENSP00000394363.1:n.-10+2220A>G
ENST00000486332.1:n.1943T>C (TAP1)
ENST00000487296.1:n.898T>C (TAP1)
NM_000593.5:c.2198T>C (TAP1)	NP_000584.2:p.Leu733Pro
NM_001292022.1:c.1415T>C (TAP1)	NP_001278951.1:p.Leu472Pro
NM_001292022.2:c.1415T>C (TAP1)	NP_001278951.1:p.Leu472Pro
NM_000593.6:c.2018T>C (TAP1) MANE Select	NP_000584.3:p.Leu673Pro