Canonical Allele Identifier: CA603676513
Gene: BCAT1 HGNC NCBI

Linked Data

dbSNP Id: rs992511573

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828508dup , CM000674.2:g.24828508dup GRCh38
NC_000012.11:g.24981442dup , CM000674.1:g.24981442dup GRCh37
NC_000012.10:g.24872709dup NCBI36
NG_008170.1:g.125875dup
NG_008170.2:g.125875dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261192.12:c.1119+1323dup MANE Select ENSP00000261192.7:n.1119+1323dup
ENST00000261192.11:c.1119+1323dup ENSP00000261192.7:n.1119+1323dup
ENST00000342945.9:c.936+1323dup ENSP00000339805.5:n.936+1323dup
ENST00000538118.5:c.1116+1323dup ENSP00000440817.1:n.1116+1323dup
ENST00000539282.5:c.1155+1323dup ENSP00000443459.1:n.1155+1323dup
ENST00000539780.5:c.1008+1323dup ENSP00000440827.1:n.1008+1323dup
ENST00000543099.1:n.174+1323dup
NM_001178091.1:c.1008+1323dup NP_001171562.1:n.1008+1323dup
NM_001178092.1:c.936+1323dup NP_001171563.1:n.936+1323dup
NM_001178093.1:c.1155+1323dup NP_001171564.1:n.1155+1323dup
NM_001178094.1:c.1116+1323dup NP_001171565.1:n.1116+1323dup
NM_005504.6:c.1119+1323dup NP_005495.2:n.1119+1323dup
XM_011520810.1:c.1155+1323dup XP_011519112.1:n.1155+1323dup
XR_931441.1:n.1532-2193dup
XR_931442.1:n.1532-2193dup
XR_931443.1:n.1439-2193dup
XM_017019768.2:c.1221+1323dup XP_016875257.1:n.1221+1323dup
XR_001748835.2:n.4171+1323dup
XR_001749047.1:n.3978-2193dup
XR_001749048.2:n.3978-2193dup
XR_001749049.1:n.3885-2193dup
NM_005504.7:c.1119+1323dup MANE Select NP_005495.2:n.1119+1323dup
NM_001178091.2:c.1008+1323dup NP_001171562.1:n.1008+1323dup
NM_001178092.2:c.936+1323dup NP_001171563.1:n.936+1323dup
NM_001178093.2:c.1155+1323dup NP_001171564.1:n.1155+1323dup
NM_001178094.2:c.1116+1323dup NP_001171565.1:n.1116+1323dup