Canonical Allele Identifier: CA449759850

Linked Data

MyVariant Identifiers: chr6:g.32814878G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32847101G>C , CM000668.2:g.32847101G>C GRCh38
NC_000006.11:g.32814878G>C , CM000668.1:g.32814878G>C GRCh37
NC_000006.10:g.32922856G>C NCBI36
NG_011759.1:g.11871C>G
NG_028165.1:g.2835C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698420.1:c.*1159C>G (TAP1) ENSP00000513708.1:n.*1159C>G
ENST00000698421.1:c.*901C>G (TAP1) ENSP00000513709.1:n.*901C>G
ENST00000698422.1:c.1818C>G (TAP1) ENSP00000513710.1:p.Ala606=
ENST00000698423.1:c.2007C>G (TAP1) ENSP00000513711.1:p.Ala669=
ENST00000698424.1:c.1878C>G (TAP1) ENSP00000513712.1:p.Ala626=
ENST00000354258.5:c.2007C>G (TAP1) MANE Select ENSP00000346206.5:p.Ala669=
ENST00000643049.2:c.552C>G (TAP1) ENSP00000494148.2:p.Ala184=
ENST00000643923.1:n.1443C>G (TAP1)
ENST00000645078.1:n.1602C>G (TAP1)
ENST00000354258.4:c.2187C>G (TAP1) ENSP00000346206.4:p.Ala729=
ENST00000395330.5:c.-10+2827G>C (PSMB9) ENSP00000378739.1:n.-10+2827G>C
ENST00000414474.5:c.-10+2231G>C (PSMB9) ENSP00000394363.1:n.-10+2231G>C
ENST00000486332.1:n.1932C>G (TAP1)
ENST00000487296.1:n.887C>G (TAP1)
NM_000593.5:c.2187C>G (TAP1) NP_000584.2:p.Ala729=
NM_001292022.1:c.1404C>G (TAP1) NP_001278951.1:p.Ala468=
NM_001292022.2:c.1404C>G (TAP1) NP_001278951.1:p.Ala468=
NM_000593.6:c.2007C>G (TAP1) MANE Select NP_000584.3:p.Ala669=