Canonical Allele Identifier: CA3063631949
Gene: BCAT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828703dup , CM000674.2:g.24828703dup GRCh38
NC_000012.11:g.24981637dup , CM000674.1:g.24981637dup GRCh37
NC_000012.10:g.24872904dup NCBI36
NG_008170.1:g.125677dup
NG_008170.2:g.125677dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261192.12:c.1119+1125dup MANE Select ENSP00000261192.7:n.1119+1125dup
ENST00000261192.11:c.1119+1125dup ENSP00000261192.7:n.1119+1125dup
ENST00000342945.9:c.936+1125dup ENSP00000339805.5:n.936+1125dup
ENST00000538118.5:c.1116+1125dup ENSP00000440817.1:n.1116+1125dup
ENST00000539282.5:c.1155+1125dup ENSP00000443459.1:n.1155+1125dup
ENST00000539780.5:c.1008+1125dup ENSP00000440827.1:n.1008+1125dup
ENST00000543099.1:n.174+1125dup
NM_001178091.1:c.1008+1125dup NP_001171562.1:n.1008+1125dup
NM_001178092.1:c.936+1125dup NP_001171563.1:n.936+1125dup
NM_001178093.1:c.1155+1125dup NP_001171564.1:n.1155+1125dup
NM_001178094.1:c.1116+1125dup NP_001171565.1:n.1116+1125dup
NM_005504.6:c.1119+1125dup NP_005495.2:n.1119+1125dup
XM_011520810.1:c.1155+1125dup XP_011519112.1:n.1155+1125dup
XR_931441.1:n.1532-1998dup
XR_931442.1:n.1532-1998dup
XR_931443.1:n.1439-1998dup
XM_017019768.2:c.1221+1125dup XP_016875257.1:n.1221+1125dup
XR_001748835.2:n.4171+1125dup
XR_001749047.1:n.3978-1998dup
XR_001749048.2:n.3978-1998dup
XR_001749049.1:n.3885-1998dup
NM_005504.7:c.1119+1125dup MANE Select NP_005495.2:n.1119+1125dup
NM_001178091.2:c.1008+1125dup NP_001171562.1:n.1008+1125dup
NM_001178092.2:c.936+1125dup NP_001171563.1:n.936+1125dup
NM_001178093.2:c.1155+1125dup NP_001171564.1:n.1155+1125dup
NM_001178094.2:c.1116+1125dup NP_001171565.1:n.1116+1125dup