Canonical Allele Identifier: CA686751539
Gene: BCAT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.24828581A>T , CM000674.2:g.24828581A>T GRCh38
NC_000012.11:g.24981515A>T , CM000674.1:g.24981515A>T GRCh37
NC_000012.10:g.24872782A>T NCBI36
NG_008170.1:g.125794T>A
NG_008170.2:g.125794T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261192.12:c.1119+1242T>A MANE Select ENSP00000261192.7:n.1119+1242T>A
ENST00000261192.11:c.1119+1242T>A ENSP00000261192.7:n.1119+1242T>A
ENST00000342945.9:c.936+1242T>A ENSP00000339805.5:n.936+1242T>A
ENST00000538118.5:c.1116+1242T>A ENSP00000440817.1:n.1116+1242T>A
ENST00000539282.5:c.1155+1242T>A ENSP00000443459.1:n.1155+1242T>A
ENST00000539780.5:c.1008+1242T>A ENSP00000440827.1:n.1008+1242T>A
ENST00000543099.1:n.174+1242T>A
NM_001178091.1:c.1008+1242T>A NP_001171562.1:n.1008+1242T>A
NM_001178092.1:c.936+1242T>A NP_001171563.1:n.936+1242T>A
NM_001178093.1:c.1155+1242T>A NP_001171564.1:n.1155+1242T>A
NM_001178094.1:c.1116+1242T>A NP_001171565.1:n.1116+1242T>A
NM_005504.6:c.1119+1242T>A NP_005495.2:n.1119+1242T>A
XM_011520810.1:c.1155+1242T>A XP_011519112.1:n.1155+1242T>A
XR_931441.1:n.1532-2120A>T
XR_931442.1:n.1532-2120A>T
XR_931443.1:n.1439-2120A>T
XM_017019768.2:c.1221+1242T>A XP_016875257.1:n.1221+1242T>A
XR_001748835.2:n.4171+1242T>A
XR_001749047.1:n.3978-2120A>T
XR_001749048.2:n.3978-2120A>T
XR_001749049.1:n.3885-2120A>T
NM_005504.7:c.1119+1242T>A MANE Select NP_005495.2:n.1119+1242T>A
NM_001178091.2:c.1008+1242T>A NP_001171562.1:n.1008+1242T>A
NM_001178092.2:c.936+1242T>A NP_001171563.1:n.936+1242T>A
NM_001178093.2:c.1155+1242T>A NP_001171564.1:n.1155+1242T>A
NM_001178094.2:c.1116+1242T>A NP_001171565.1:n.1116+1242T>A